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Regulation of molecular function

Regulation of molecular function

  • ACADVL: acyl-CoA dehydrogenase, very long chain
  • AGT: angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
  • AGTR1: angiotensin II receptor, type 1
  • AKT1: v-akt murine thymoma viral oncogene homolog 1
  • ALDOB: aldolase B, fructose-bisphosphate
  • ALK: anaplastic lymphoma receptor tyrosine kinase
  • ALS2: amyotrophic lateral sclerosis 2 (juvenile)
  • ANG: angiogenin, ribonuclease, RNase A family, 5
  • ANK2: ankyrin 2, neuronal
  • APC: adenomatous polyposis coli
  • APOA1: apolipoprotein A-I
  • APOE: apolipoprotein E
  • APP: amyloid beta (A4) precursor protein
  • AR: androgen receptor
  • ARFGEF2: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
  • ATP7A: ATPase, Cu++ transporting, alpha polypeptide
  • AVP: arginine vasopressin
  • AVPR2: arginine vasopressin receptor 2
  • BLM: Bloom syndrome, RecQ helicase-like
  • BRAF: B-Raf proto-oncogene, serine/threonine kinase
  • BTK: Bruton agammaglobulinemia tyrosine kinase
  • CACNB4: calcium channel, voltage-dependent, beta 4 subunit
  • CALR: calreticulin
  • CAPN3: calpain 3, (p94)
  • CARD14: caspase recruitment domain family, member 14
  • CASQ2: calsequestrin 2 (cardiac muscle)
  • CAV3: caveolin 3
  • CDC6: cell division cycle 6
  • CDKL5: cyclin-dependent kinase-like 5
  • CDKN1B: cyclin-dependent kinase inhibitor 1B (p27, Kip1)
  • CDKN1C: cyclin-dependent kinase inhibitor 1C (p57, Kip2)
  • CFTR: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
  • CLN3: ceroid-lipofuscinosis, neuronal 3
  • COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen)
  • CSF1R: colony stimulating factor 1 receptor
  • CST3: cystatin C
  • CSTB: cystatin B (stefin B)
  • CTSA: cathepsin A
  • CUL7: cullin 7
  • CYLD: cylindromatosis (turban tumor syndrome)
  • CYP1B1: cytochrome P450, family 1, subfamily B, polypeptide 1
  • CYP27B1: cytochrome P450, family 27, subfamily B, polypeptide 1
  • DCTN1: dynactin 1
  • DDX11: DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
  • DHCR24: 24-dehydrocholesterol reductase
  • DIRAS3: DIRAS family, GTP-binding RAS-like 3
  • DMD: dystrophin
  • DMPK: dystrophia myotonica-protein kinase
  • DNM2: dynamin 2
  • DOK7: docking protein 7
  • DRD3: dopamine receptor D3
  • DRD5: dopamine receptor D5
  • EDA: ectodysplasin A
  • EDN3: endothelin 3
  • EDNRB: endothelin receptor type B
  • EGLN1: egl-9 family hypoxia-inducible factor 1
  • EIF2B1: eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
  • 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
  • ELANE: elastase, neutrophil expressed
  • ENG: endoglin
  • EP300: E1A binding protein p300
  • ERBB2: v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2
  • ERCC6: excision repair cross-complementation group 6
  • EZH2: enhancer of zeste 2 polycomb repressive complex 2 subunit
  • FAS: Fas cell surface death receptor
  • FGD1: FYVE, RhoGEF and PH domain containing 1
  • FGD4: FYVE, RhoGEF and PH domain containing 4
  • FGF10: fibroblast growth factor 10
  • FGF23: fibroblast growth factor 23
  • FGFR1: fibroblast growth factor receptor 1
  • FGFR2: fibroblast growth factor receptor 2
  • FGFR3: fibroblast growth factor receptor 3
  • FGFR4: fibroblast growth factor receptor 4
  • FLNA: filamin A, alpha
  • FLT3: fms-related tyrosine kinase 3
  • FOXL2: forkhead box L2
  • FOXP3: forkhead box P3
  • FXN: frataxin
  • FZD4: frizzled class receptor 4
  • GATA1: GATA binding protein 1 (globin transcription factor 1)
  • GBA: glucosidase, beta, acid
  • GCH1: GTP cyclohydrolase 1
  • GH1: growth hormone 1
  • GLA: galactosidase, alpha
  • GNAI3: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
  • GNAS: GNAS complex locus
  • GNAT1: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
  • HRAS: Harvey rat sarcoma viral oncogene homolog
  • HSPB1: heat shock 27kDa protein 1
  • HTT: huntingtin
  • IGF2: insulin-like growth factor 2
  • 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
  • IL23R: interleukin 23 receptor
  • INS: insulin
  • JAK2: Janus kinase 2
  • JPH3: junctophilin 3
  • KCNE1: potassium voltage-gated channel, Isk-related family, member 1
  • KCNE2: potassium voltage-gated channel, Isk-related family, member 2
  • KIT: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
  • KRAS: Kirsten rat sarcoma viral oncogene homolog
  • KRIT1: KRIT1, ankyrin repeat containing
  • LDLRAP1: low density lipoprotein receptor adaptor protein 1
  • LHCGR: luteinizing hormone/choriogonadotropin receptor
  • LIMK1: LIM domain kinase 1
  • LMNA: lamin A/C
  • LRP5: low density lipoprotein receptor-related protein 5
  • LRRK2: leucine-rich repeat kinase 2
  • MAP2K1: mitogen-activated protein kinase kinase 1
  • MAP2K2: mitogen-activated protein kinase kinase 2
  • MEFV: Mediterranean fever
  • MEN1: multiple endocrine neoplasia I
  • MSH2: mutS homolog 2
  • MSH6: mutS homolog 6
  • MSX2: msh homeobox 2
  • MYBPC3: myosin binding protein C, cardiac
  • MYH6: myosin, heavy chain 6, cardiac muscle, alpha
  • NBN: nibrin
  • NCF4: neutrophil cytosolic factor 4, 40kDa
  • NCSTN: nicastrin
  • NF1: neurofibromin 1
  • NFKBIA: nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
  • NGF: nerve growth factor (beta polypeptide)
  • NLRP1: NLR family, pyrin domain containing 1
  • NLRP12: NLR family, pyrin domain containing 12
  • NLRP3: NLR family, pyrin domain containing 3
  • NOD2: nucleotide-binding oligomerization domain containing 2
  • NOG: noggin
  • NPM1: nucleophosmin (nucleolar phosphoprotein B23, numatrin)
  • NR0B1: nuclear receptor subfamily 0, group B, member 1
  • NRAS: neuroblastoma RAS viral (v-ras) oncogene homolog
  • NTRK1: neurotrophic tyrosine kinase, receptor, type 1
  • OCRL: oculocerebrorenal syndrome of Lowe
  • PAFAH1B1: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
  • PARK2: parkin RBR E3 ubiquitin protein ligase
  • PARK7: parkinson protein 7
  • PAX2: paired box 2
  • PCSK9: proprotein convertase subtilisin/kexin type 9
  • PDCD10: programmed cell death 10
  • PDGFB: platelet-derived growth factor beta polypeptide
  • PDGFRA: platelet-derived growth factor receptor, alpha polypeptide
  • PDGFRB: platelet-derived growth factor receptor, beta polypeptide
  • PIK3R1: phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
  • PINK1: PTEN induced putative kinase 1
  • PKD1: polycystic kidney disease 1 (autosomal dominant)
  • PKD2: polycystic kidney disease 2 (autosomal dominant)
  • PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive)
  • PML: promyelocytic leukemia
  • POR: P450 (cytochrome) oxidoreductase
  • PPP1R12A: protein phosphatase 1, regulatory subunit 12A
  • PRKAG2: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
  • PRKAR1A: protein kinase, cAMP-dependent, regulatory, type I, alpha
  • PRNP: prion protein
  • PROK2: prokineticin 2
  • PROS1: protein S (alpha)
  • PSAP: prosaposin
  • PSEN1: presenilin 1
  • PSEN2: presenilin 2
  • PSENEN: presenilin enhancer gamma secretase subunit
  • PSMB8: proteasome (prosome, macropain) subunit, beta type, 8
  • PTCH1: patched 1
  • PTEN: phosphatase and tensin homolog
  • PTS: 6-pyruvoyltetrahydropterin synthase
  • RAD50: RAD50 homolog (S. cerevisiae)
  • RAF1: Raf-1 proto-oncogene, serine/threonine kinase
  • RARA: retinoic acid receptor, alpha
  • RASA1: RAS p21 protein activator (GTPase activating protein) 1
  • RB1: retinoblastoma 1
  • RELN: reelin
  • RET: ret proto-oncogene
  • RP2: retinitis pigmentosa 2 (X-linked recessive)
  • RPS6KA3: ribosomal protein S6 kinase, 90kDa, polypeptide 3
  • RYR2: ryanodine receptor 2 (cardiac)
  • SBF2: SET binding factor 2
  • SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
  • SERPINA6: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
  • SERPINA7: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
  • SERPINC1: serpin peptidase inhibitor, clade C (antithrombin), member 1
  • SERPING1: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
  • SERPINI1: serpin peptidase inhibitor, clade I (neuroserpin), member 1
  • SHANK3: SH3 and multiple ankyrin repeat domains 3
  • SHH: sonic hedgehog
  • SKI: SKI proto-oncogene
  • SMAD3: SMAD family member 3
  • SMARCA4: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
  • SMARCB1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
  • SMPD1: sphingomyelin phosphodiesterase 1, acid lysosomal
  • SNCA: synuclein, alpha (non A4 component of amyloid precursor)
  • SOD1: superoxide dismutase 1, soluble
  • SOS1: son of sevenless homolog 1 (Drosophila)
  • SOX2: SRY (sex determining region Y)-box 2
  • SPINK5: serine peptidase inhibitor, Kazal type 5
  • SPR: sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
  • SPRED1: sprouty-related, EVH1 domain containing 1
  • STIM1: stromal interaction molecule 1
  • STK11: serine/threonine kinase 11
  • TEK: TEK tyrosine kinase, endothelial
  • TFAP2B: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
  • TGFB1: transforming growth factor, beta 1
  • TGFB2: transforming growth factor, beta 2
  • TGFBR1: transforming growth factor, beta receptor 1
  • TGFBR2: transforming growth factor, beta receptor II (70/80kDa)
  • TNFRSF11A: tumor necrosis factor receptor superfamily, member 11a, NFKB activator
  • TNNI3: troponin I type 3 (cardiac)
  • TNNT2: troponin T type 2 (cardiac)
  • TP53: tumor protein p53
  • TPM2: tropomyosin 2 (beta)
  • TPP1: tripeptidyl peptidase I
  • TSC1: tuberous sclerosis 1
  • TSC2: tuberous sclerosis 2
  • TTN: titin
  • TWIST1: twist family bHLH transcription factor 1
  • UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
  • UGT1A1: UDP glucuronosyltransferase 1 family, polypeptide A1
  • VAPB: VAMP (vesicle-associated membrane protein)-associated protein B and C
  • VCP: valosin containing protein
  • VDR: vitamin D (1,25- dihydroxyvitamin D3) receptor
  • WAS: Wiskott-Aldrich syndrome
  • WFS1: Wolfram syndrome 1 (wolframin)
  • WNK1: WNK lysine deficient protein kinase 1
  • WRN: Werner syndrome, RecQ helicase-like
  • XIAP: X-linked inhibitor of apoptosis
  • YWHAE: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
  • ZIC2: Zic family member 2

Source: Gene Ontology ConsortiumThis link leads to a site outside Genetics Home Reference..

 
Published: September 29, 2014