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Regulation of cellular process

Regulation of cellular process

  • AAAS: aladin WD repeat nucleoporin
  • ABCA1: ATP binding cassette subfamily A member 1
  • ABCA4: ATP binding cassette subfamily A member 4
  • ABCB4: ATP binding cassette subfamily B member 4
  • ABCC8: ATP binding cassette subfamily C member 8
  • ABCC9: ATP binding cassette subfamily C member 9
  • ABHD5: abhydrolase domain containing 5
  • ACADVL: acyl-CoA dehydrogenase, very long chain
  • ACE: angiotensin I converting enzyme
  • ACTB: actin, beta
  • ACTG1: actin gamma 1
  • ACVR1: activin A receptor type I
  • ACVRL1: activin A receptor type IL
  • ADA: adenosine deaminase
  • ADAMTS13: ADAM metallopeptidase with thrombospondin type 1 motif 13
  • ADAMTSL2: ADAMTS like 2
  • ADAMTSL4: ADAMTS like 4
  • ADCY5: adenylate cyclase 5
  • ADGRG1: adhesion G protein-coupled receptor G1
  • ADGRV1: adhesion G protein-coupled receptor V1
  • AFF2: AF4/FMR2 family member 2
  • AGPAT2: 1-acylglycerol-3-phosphate O-acyltransferase 2
  • AGT: angiotensinogen
  • AGTR1: angiotensin II receptor type 1
  • AIP: aryl hydrocarbon receptor interacting protein
  • AIRE: autoimmune regulator
  • AKT1: v-akt murine thymoma viral oncogene homolog 1
  • ALK: anaplastic lymphoma receptor tyrosine kinase
  • ALMS1: ALMS1, centrosome and basal body associated protein
  • ALOX12B: arachidonate 12-lipoxygenase, 12R type
  • ALOXE3: arachidonate lipoxygenase 3
  • ALS2: ALS2, alsin Rho guanine nucleotide exchange factor
  • ALX1: ALX homeobox 1
  • AMELX: amelogenin, X-linked
  • AMHR2: anti-Mullerian hormone receptor type II
  • ANG: angiogenin, ribonuclease, RNase A family, 5
  • ANK2: ankyrin 2, neuronal
  • APC: adenomatous polyposis coli
  • APOA1: apolipoprotein A-I
  • APOB: apolipoprotein B
  • APOE: apolipoprotein E
  • APP: amyloid beta precursor protein
  • AR: androgen receptor
  • ARFGEF2: ADP ribosylation factor guanine nucleotide exchange factor 2
  • ARHGAP31: Rho GTPase activating protein 31
  • ARID1A: AT-rich interaction domain 1A
  • ARID1B: AT-rich interaction domain 1B
  • ARSB: arylsulfatase B
  • ASS1: argininosuccinate synthase 1
  • ATM: ATM serine/threonine kinase
  • ATN1: atrophin 1
  • ATP1A2: ATPase, Na+/K+ transporting, alpha 2 polypeptide
  • ATP2A1: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
  • ATP2A2: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
  • ATP2C1: ATPase, Ca++ transporting, type 2C, member 1
  • ATP6V0A2: ATPase, H+ transporting, lysosomal V0 subunit a2
  • ATP6V0A4: ATPase, H+ transporting, lysosomal V0 subunit a4
  • ATP6V1B1: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
  • ATP7A: ATPase, Cu++ transporting, alpha polypeptide
  • ATP8B1: ATPase, aminophospholipid transporter, class I, type 8B, member 1
  • ATRX: alpha thalassemia/mental retardation syndrome X-linked
  • ATXN1: ataxin 1
  • ATXN2: ataxin 2
  • ATXN3: ataxin 3
  • AURKC: aurora kinase C
  • AVP: arginine vasopressin
  • AVPR2: arginine vasopressin receptor 2
  • BBS10: Bardet-Biedl syndrome 10
  • BCOR: BCL6 corepressor
  • BDNF: brain-derived neurotrophic factor
  • BIN1: bridging integrator 1
  • BLM: Bloom syndrome, RecQ helicase-like
  • BMPR1A: bone morphogenetic protein receptor type 1A
  • BMPR2: bone morphogenetic protein receptor type II
  • BRAF: B-Raf proto-oncogene, serine/threonine kinase
  • BRCA1: breast cancer 1
  • BRCA2: breast cancer 2
  • BTK: Bruton tyrosine kinase
  • C2: complement component 2
  • C3: complement component 3
  • CACNA1A: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
  • CACNA1C: calcium channel, voltage-dependent, L type, alpha 1C subunit
  • CACNB4: calcium channel, voltage-dependent, beta 4 subunit
  • CALR: calreticulin
  • CAPN3: calpain 3
  • CARD14: caspase recruitment domain family member 14
  • CASK: calcium/calmodulin-dependent serine protein kinase (MAGUK family)
  • CASQ2: calsequestrin 2
  • CASR: calcium sensing receptor
  • CAT: catalase
  • CAV1: caveolin 1
  • CAV3: caveolin 3
  • CCBE1: collagen and calcium binding EGF domains 1
  • CCM2: cerebral cavernous malformation 2
  • CD40LG: CD40 ligand
  • CDAN1: codanin 1
  • CDC6: cell division cycle 6
  • CDC73: cell division cycle 73
  • CDH1: cadherin 1
  • CDKL5: cyclin dependent kinase like 5
  • CDKN1B: cyclin-dependent kinase inhibitor 1B (p27, Kip1)
  • CDKN1C: cyclin-dependent kinase inhibitor 1C (p57, Kip2)
  • CDKN2A: cyclin-dependent kinase inhibitor 2A
  • CDT1: chromatin licensing and DNA replication factor 1
  • CEBPA: CCAAT/enhancer binding protein alpha
  • CEP290: centrosomal protein 290kDa
  • CFTR: cystic fibrosis transmembrane conductance regulator
  • CHD7: chromodomain helicase DNA binding protein 7
  • CHEK2: checkpoint kinase 2
  • CHMP2B: charged multivesicular body protein 2B
  • CHN1: chimerin 1
  • CHRNA2: cholinergic receptor, nicotinic alpha 2
  • CHRNA4: cholinergic receptor, nicotinic alpha 4
  • CHRNB2: cholinergic receptor, nicotinic beta 2
  • CHRNE: cholinergic receptor, nicotinic epsilon
  • CHRNG: cholinergic receptor, nicotinic gamma
  • CIRH1A: cirrhosis, autosomal recessive 1A (cirhin)
  • CISD2: CDGSH iron sulfur domain 2
  • CLCF1: cardiotrophin-like cytokine factor 1
  • CLCN1: chloride channel, voltage-sensitive 1
  • CLCNKA: chloride channel, voltage-sensitive Ka
  • CLCNKB: chloride channel, voltage-sensitive Kb
  • CLN3: ceroid-lipofuscinosis, neuronal 3
  • CLN6: ceroid-lipofuscinosis, neuronal 6, late infantile, variant
  • CLN8: ceroid-lipofuscinosis, neuronal 8
  • CLRN1: clarin 1
  • CNBP: CCHC-type zinc finger, nucleic acid binding protein
  • CNGA3: cyclic nucleotide gated channel alpha 3
  • CNGB3: cyclic nucleotide gated channel beta 3
  • COL18A1: collagen type XVIII alpha 1
  • COL1A1: collagen type I alpha 1
  • COL1A2: collagen type I alpha 2
  • COL3A1: collagen type III alpha 1
  • COL4A3: collagen type IV alpha 3
  • COL5A1: collagen type V alpha 1
  • COL5A2: collagen type V alpha 2
  • COMP: cartilage oligomeric matrix protein
  • CREBBP: CREB binding protein
  • CRLF1: cytokine receptor-like factor 1
  • CRTAP: cartilage associated protein
  • CSF1R: colony stimulating factor 1 receptor
  • CST3: cystatin C
  • CSTB: cystatin B
  • CTC1: CTS telomere maintenance complex component 1
  • CTDP1: CTD phosphatase subunit 1
  • CTNNB1: catenin beta 1
  • CTNND2: catenin delta 2
  • CTSA: cathepsin A
  • CUL7: cullin 7
  • CXCR4: chemokine (C-X-C motif) receptor 4
  • CYBA: cytochrome b-245, alpha polypeptide
  • CYBB: cytochrome b-245, beta polypeptide
  • CYLD: cylindromatosis (turban tumor syndrome)
  • CYP1B1: cytochrome P450 family 1 subfamily B member 1
  • CYP27B1: cytochrome P450 family 27 subfamily B member 1
  • CYP4V2: cytochrome P450 family 4 subfamily V member 2
  • DCC: DCC netrin 1 receptor
  • DCN: decorin
  • DCTN1: dynactin subunit 1
  • DCX: doublecortin
  • DDX11: DEAD/H-box helicase 11
  • DHCR24: 24-dehydrocholesterol reductase
  • DICER1: dicer 1 ribonuclease III
  • DKC1: dyskeratosis congenita 1, dyskerin
  • DLAT: dihydrolipoamide S-acetyltransferase
  • DLD: dihydrolipoamide dehydrogenase
  • DLL4: delta-like 4 (Drosophila)
  • DMD: dystrophin
  • DMPK: dystrophia myotonica protein kinase
  • DNM2: dynamin 2
  • DNMT1: DNA (cytosine-5-)-methyltransferase 1
  • DOK7: docking protein 7
  • DRD5: dopamine receptor D5
  • DSC2: desmocollin 2
  • DSP: desmoplakin
  • DUOX2: dual oxidase 2
  • DUX4: double homeobox 4
  • DVL1: dishevelled segment polarity protein 1
  • EBP: emopamil binding protein (sterol isomerase)
  • EDA: ectodysplasin A
  • EDAR: ectodysplasin A receptor
  • EDARADD: EDAR-associated death domain
  • EDN3: endothelin 3
  • EDNRB: endothelin receptor type B
  • EGFR: epidermal growth factor receptor
  • EGLN1: egl-9 family hypoxia-inducible factor 1
  • EGR2: early growth response 2
  • EHMT1: euchromatic histone-lysine N-methyltransferase 1
  • EIF2AK4: eukaryotic translation initiation factor 2 alpha kinase 4
  • EIF2B1: eukaryotic translation initiation factor 2B subunit alpha
  • EIF2B2: eukaryotic translation initiation factor 2B subunit beta
  • EIF2B3: eukaryotic translation initiation factor 2B subunit gamma
  • EIF2B4: eukaryotic translation initiation factor 2B subunit delta
  • EIF2B5: eukaryotic translation initiation factor 2B subunit epsilon
  • ELANE: elastase, neutrophil expressed
  • EMD: emerin
  • ENG: endoglin
  • ENPP1: ectonucleotide pyrophosphatase/phosphodiesterase 1
  • EP300: E1A binding protein p300
  • EPAS1: endothelial PAS domain protein 1
  • EPCAM: epithelial cell adhesion molecule
  • EPOR: erythropoietin receptor
  • ERCC2: excision repair cross-complementation group 2
  • ERCC3: excision repair cross-complementation group 3
  • ERCC6: excision repair cross-complementation group 6
  • ERCC8: excision repair cross-complementation group 8
  • ESCO2: establishment of sister chromatid cohesion N-acetyltransferase 2
  • ETV6: ets variant 6
  • EVC: Ellis van Creveld protein
  • EVC2: Ellis van Creveld syndrome 2
  • EXT1: exostosin glycosyltransferase 1
  • EXT2: exostosin glycosyltransferase 2
  • EYA1: EYA transcriptional coactivator and phosphatase 1
  • EZH2: enhancer of zeste 2 polycomb repressive complex 2 subunit
  • F10: coagulation factor X
  • F12: coagulation factor XII
  • F2: coagulation factor II, thrombin
  • FAM126A: family with sequence similarity 126 member A
  • FAM134B: family with sequence similarity 134 member B
  • FAM83H: family with sequence similarity 83 member H
  • FAS: Fas cell surface death receptor
  • FAT4: FAT atypical cadherin 4
  • FBLN5: fibulin 5
  • FBN1: fibrillin 1
  • FBN2: fibrillin 2
  • FGA: fibrinogen alpha chain
  • FGB: fibrinogen beta chain
  • 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
  • FGF3: fibroblast growth factor 3
  • FGFR1: fibroblast growth factor receptor 1
  • FGFR2: fibroblast growth factor receptor 2
  • FGFR3: fibroblast growth factor receptor 3
  • FGFR4: fibroblast growth factor receptor 4
  • FGG: fibrinogen gamma chain
  • FKTN: fukutin
  • FLCN: folliculin
  • FLI1: Fli-1 proto-oncogene, ETS transcription factor
  • FLNA: filamin A
  • FLNB: filamin B
  • FLT3: fms related tyrosine kinase 3
  • FLT4: fms related tyrosine kinase 4
  • FMR1: fragile X mental retardation 1
  • FN1: fibronectin 1
  • FOLR1: folate receptor 1 (adult)
  • FOXC1: forkhead box C1
  • FOXC2: forkhead box C2
  • FOXF1: forkhead box F1
  • FOXG1: forkhead box G1
  • FOXL2: forkhead box L2
  • FOXN1: forkhead box N1
  • FOXP3: forkhead box P3
  • FRMD7: FERM domain containing 7
  • FUS: FUS RNA binding protein
  • FXN: frataxin
  • FZD4: frizzled class receptor 4
  • G6PD: glucose-6-phosphate dehydrogenase
  • GABRA1: gamma-aminobutyric acid (GABA) A receptor, alpha 1
  • GATA1: GATA binding protein 1 (globin transcription factor 1)
  • GBA: glucosidase, beta, acid
  • GCH1: GTP cyclohydrolase 1
  • GDF3: growth differentiation factor 3
  • GDF6: growth differentiation factor 6
  • GFAP: glial fibrillary acidic protein
  • GH1: growth hormone 1
  • GHR: growth hormone receptor
  • GHRHR: growth hormone releasing hormone receptor
  • GJA1: gap junction protein alpha 1
  • GLA: galactosidase alpha
  • GLI3: GLI family zinc finger 3
  • GLRA1: glycine receptor alpha 1
  • GNA11: guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
  • GNAI3: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
  • GNAT1: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
  • GNAT2: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
  • GPC3: glypican 3
  • GPR143: G protein-coupled receptor 143
  • GRIP1: glutamate receptor interacting protein 1
  • GRM6: glutamate receptor, metabotropic 6
  • GRN: granulin
  • GSN: gelsolin
  • GTF2H5: general transcription factor IIH subunit 5
  • GTF2I: general transcription factor IIi
  • GTF2IRD1: GTF2I repeat domain containing 1
  • GUCY2D: guanylate cyclase 2D, membrane (retina-specific)
  • HAMP: hepcidin antimicrobial peptide
  • HAX1: HCLS1 associated protein X-1
  • HBA2: hemoglobin subunit alpha 2
  • HBB: hemoglobin subunit beta
  • HCFC1: host cell factor C1
  • HCN4: hyperpolarization activated cyclic nucleotide gated potassium channel 4
  • HDAC8: histone deacetylase 8
  • HFE: hemochromatosis
  • HFE2: hemochromatosis type 2 (juvenile)
  • HINT1: histidine triad nucleotide binding protein 1
  • HLA-B: major histocompatibility complex, class I, B
  • HLA-DPB1: major histocompatibility complex, class II, DP beta 1
  • HLA-DQA1: major histocompatibility complex, class II, DQ alpha 1
  • HLA-DQB1: major histocompatibility complex, class II, DQ beta 1
  • HLA-DRB1: major histocompatibility complex, class II, DR beta 1
  • HPRT1: hypoxanthine phosphoribosyltransferase 1
  • HRAS: Harvey rat sarcoma viral oncogene homolog
  • HSPB1: heat shock protein family B (small) member 1
  • HSPB8: heat shock protein family B (small) member 8
  • HTT: huntingtin
  • IFT122: intraflagellar transport 122
  • IFT140: intraflagellar transport 140
  • IGF2: insulin like growth factor 2
  • IGFBP7: insulin like growth factor binding protein 7
  • 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
  • IL23R: interleukin 23 receptor
  • IL2RG: interleukin 2 receptor subunit gamma
  • IL7R: interleukin 7 receptor
  • INS: insulin
  • INSR: insulin receptor
  • IRAK4: interleukin 1 receptor associated kinase 4
  • IRF5: interferon regulatory factor 5
  • IRF6: interferon regulatory factor 6
  • ITGA2B: integrin subunit alpha 2b
  • ITGA6: integrin subunit alpha 6
  • ITGB2: integrin subunit beta 2
  • ITGB3: integrin subunit beta 3
  • ITM2B: integral membrane protein 2B
  • JAG1: jagged 1
  • JAK2: Janus kinase 2
  • JPH3: junctophilin 3
  • JUP: junction plakoglobin
  • KANK2: KN motif and ankyrin repeat domains 2
  • KAT6B: K(lysine) acetyltransferase 6B
  • KCNA1: potassium channel, voltage gated shaker related subfamily A, member 1
  • KCNE1: potassium channel, voltage gated subfamily E regulatory beta subunit 1
  • KCNE2: potassium channel, voltage gated subfamily E regulatory beta subunit 2
  • KCNH2: potassium channel, voltage gated eag related subfamily H, member 2
  • KCNJ11: potassium channel, inwardly rectifying subfamily J, member 11
  • KCNJ2: potassium channel, inwardly rectifying subfamily J, member 2
  • KCNQ1: potassium channel, voltage gated KQT-like subfamily Q, member 1
  • KIT: KIT proto-oncogene receptor tyrosine kinase
  • KL: klotho
  • KLKB1: kallikrein B1
  • KLLN: killin, p53-regulated DNA replication inhibitor
  • KMT2D: lysine (K)-specific methyltransferase 2D
  • KRAS: Kirsten rat sarcoma viral oncogene homolog
  • KRIT1: KRIT1, ankyrin repeat containing
  • KRT16: keratin 16, type I
  • KRT17: keratin 17, type I
  • KRT6A: keratin 6A, type II
  • L1CAM: L1 cell adhesion molecule
  • LDLR: low density lipoprotein receptor
  • LDLRAP1: low density lipoprotein receptor adaptor protein 1
  • LEMD3: LEM domain containing 3
  • LEP: leptin
  • LEPR: leptin receptor
  • LFNG: LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
  • LGI1: leucine-rich, glioma inactivated 1
  • LHCGR: luteinizing hormone/choriogonadotropin receptor
  • LIMK1: LIM domain kinase 1
  • LITAF: lipopolysaccharide-induced TNF factor
  • LMNA: lamin A/C
  • LMX1B: LIM homeobox transcription factor 1, beta
  • LPIN2: lipin 2
  • LPL: lipoprotein lipase
  • LRP2: LDL receptor related protein 2
  • LRP5: LDL receptor related protein 5
  • LRRK2: leucine-rich repeat kinase 2
  • MAP2K1: mitogen-activated protein kinase kinase 1
  • MAP2K2: mitogen-activated protein kinase kinase 2
  • MAP3K1: mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
  • MAPT: microtubule associated protein tau
  • MASP1: mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
  • MBL2: mannose binding lectin 2
  • MC1R: melanocortin 1 receptor
  • MC2R: melanocortin 2 receptor
  • MECP2: methyl-CpG binding protein 2
  • MED12: mediator complex subunit 12
  • MEFV: Mediterranean fever
  • MEGF8: multiple EGF like domains 8
  • MEN1: menin 1
  • MFN2: mitofusin 2
  • MID1: midline 1
  • MITF: microphthalmia-associated transcription factor
  • MKKS: McKusick-Kaufman syndrome
  • MLC1: megalencephalic leukoencephalopathy with subcortical cysts 1
  • MLYCD: malonyl-CoA decarboxylase
  • MMP14: matrix metallopeptidase 14
  • MMP2: matrix metallopeptidase 2
  • MPL: MPL proto-oncogene, thrombopoietin receptor
  • MPV17: MpV17 mitochondrial inner membrane protein
  • MRAP: melanocortin 2 receptor accessory protein
  • MSH2: mutS homolog 2
  • MSH6: mutS homolog 6
  • MSTN: myostatin
  • MSX1: msh homeobox 1
  • MSX2: msh homeobox 2
  • MTHFR: methylenetetrahydrofolate reductase (NAD(P)H)
  • MTM1: myotubularin 1
  • MTMR2: myotubularin related protein 2
  • MUC1: mucin 1, cell surface associated
  • MYBPC1: myosin binding protein C, slow type
  • MYBPC3: myosin binding protein C, cardiac
  • MYCN: v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
  • MYD88: myeloid differentiation primary response 88
  • MYH11: myosin, heavy chain 11, smooth muscle
  • MYH9: myosin, heavy chain 9, non-muscle
  • MYOC: myocilin, trabecular meshwork inducible glucocorticoid response
  • NBN: nibrin
  • NCF1: neutrophil cytosolic factor 1
  • NCF2: neutrophil cytosolic factor 2
  • NCF4: neutrophil cytosolic factor 4
  • NCSTN: nicastrin
  • NDP: Norrie disease (pseudoglioma)
  • NDRG1: N-myc downstream regulated 1
  • NEB: nebulin
  • NEFH: neurofilament, heavy polypeptide
  • NEFL: neurofilament, light polypeptide
  • NF1: neurofibromin 1
  • NF2: neurofibromin 2 (merlin)
  • NFKBIA: nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
  • NGF: nerve growth factor (beta polypeptide)
  • NIPBL: Nipped-B homolog (Drosophila)
  • 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
  • NOTCH1: notch 1
  • NOTCH2: notch 2
  • NOTCH3: notch 3
  • NPC1: Niemann-Pick disease, type C1
  • NPC2: Niemann-Pick disease, type C2
  • NPHP1: nephronophthisis 1 (juvenile)
  • NPM1: nucleophosmin (nucleolar phosphoprotein B23, numatrin)
  • NR0B1: nuclear receptor subfamily 0 group B member 1
  • NR3C2: nuclear receptor subfamily 3 group C member 2
  • NR5A1: nuclear receptor subfamily 5 group A member 1
  • NRAS: neuroblastoma RAS viral (v-ras) oncogene homolog
  • NSD1: nuclear receptor binding SET domain protein 1
  • NTRK1: neurotrophic tyrosine kinase, receptor, type 1
  • NYX: nyctalopin
  • OCRL: oculocerebrorenal syndrome of Lowe
  • OPA1: optic atrophy 1 (autosomal dominant)
  • OPN1MW: opsin 1 (cone pigments), medium-wave-sensitive
  • OPN1SW: opsin 1 (cone pigments), short-wave-sensitive
  • ORC1: origin recognition complex subunit 1
  • OTX2: orthodenticle homeobox 2
  • P3H1: prolyl 3-hydroxylase 1
  • PABPN1: poly(A) binding protein, nuclear 1
  • PAFAH1B1: platelet activating factor acetylhydrolase 1b regulatory subunit 1
  • PANK2: pantothenate kinase 2
  • PARK2: parkin RBR E3 ubiquitin protein ligase
  • PARK7: parkinson protein 7
  • PAX2: paired box 2
  • PAX3: paired box 3
  • PAX6: paired box 6
  • PAX8: paired box 8
  • PC: pyruvate carboxylase
  • PCNT: pericentrin
  • PCSK9: proprotein convertase subtilisin/kexin type 9
  • PDCD10: programmed cell death 10
  • PDE6B: phosphodiesterase 6B
  • PDGFB: platelet derived growth factor subunit B
  • PDGFRA: platelet derived growth factor receptor alpha
  • PDGFRB: platelet derived growth factor receptor beta
  • PDHA1: pyruvate dehydrogenase (lipoamide) alpha 1
  • PDHB: pyruvate dehydrogenase (lipoamide) beta
  • PDHX: pyruvate dehydrogenase complex component X
  • PDP1: pyruvate dehydrogenase phosphatase catalytic subunit 1
  • PGAM2: phosphoglycerate mutase 2
  • PHF8: PHD finger protein 8
  • PHKG2: phosphorylase kinase, gamma 2 (testis)
  • PHOX2A: paired like homeobox 2a
  • PHOX2B: paired like homeobox 2b
  • PIK3CA: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
  • PIK3CD: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
  • PIK3R1: phosphoinositide-3-kinase regulatory subunit 1
  • PINK1: PTEN induced putative kinase 1
  • PITX2: paired like homeodomain 2
  • PKD1: polycystin 1, transient receptor potential channel interacting
  • PKD2: polycystin 2, transient receptor potential cation channel
  • PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive)
  • PKLR: pyruvate kinase, liver and RBC
  • PKP2: plakophilin 2
  • PLA2G6: phospholipase A2 group VI
  • PLAGL1: PLAG1 like zinc finger 1
  • PLG: plasminogen
  • PML: promyelocytic leukemia
  • PNP: purine nucleoside phosphorylase
  • PNPLA2: patatin like phospholipase domain containing 2
  • POLH: polymerase (DNA directed), eta
  • POLR3A: polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
  • POMC: proopiomelanocortin
  • POMT1: protein-O-mannosyltransferase 1
  • POMT2: protein-O-mannosyltransferase 2
  • PORCN: porcupine homolog (Drosophila)
  • POU3F4: POU class 3 homeobox 4
  • PPT1: palmitoyl-protein thioesterase 1
  • PQBP1: polyglutamine binding protein 1
  • PRICKLE1: prickle planar cell polarity protein 1
  • PRKAG2: protein kinase AMP-activated non-catalytic subunit gamma 2
  • PRKAR1A: protein kinase cAMP-dependent type I regulatory subunit alpha
  • PRNP: prion protein
  • PROC: protein C, inactivator of coagulation factors Va and VIIIa
  • PRODH: proline dehydrogenase (oxidase) 1
  • PROK2: prokineticin 2
  • PROKR2: prokineticin receptor 2
  • PROS1: protein S (alpha)
  • PRPH2: peripherin 2 (retinal degeneration, slow)
  • PSAP: prosaposin
  • PSEN1: presenilin 1
  • PSEN2: presenilin 2
  • PSENEN: presenilin enhancer gamma secretase subunit
  • PSMB8: proteasome subunit beta 8
  • PTCH1: patched 1
  • PTEN: phosphatase and tensin homolog
  • PTPN11: protein tyrosine phosphatase, non-receptor type 11
  • PTPN22: protein tyrosine phosphatase, non-receptor type 22
  • RAB23: RAB23, member RAS oncogene family
  • RAB27A: RAB27A, member RAS oncogene family
  • RAB7A: RAB7A, member RAS oncogene family
  • RAD21: RAD21 cohesin complex component
  • RAD51: RAD51 recombinase
  • RAF1: Raf-1 proto-oncogene, serine/threonine kinase
  • RAI1: retinoic acid induced 1
  • RARA: retinoic acid receptor alpha
  • RASA1: RAS p21 protein activator 1
  • RB1: retinoblastoma 1
  • RBM8A: RNA binding motif protein 8A
  • RBPJ: recombination signal binding protein for immunoglobulin kappa J region
  • RELN: reelin
  • REN: renin
  • RET: ret proto-oncogene
  • RGS9: regulator of G-protein signaling 9
  • RGS9BP: regulator of G-protein signaling 9 binding protein
  • RHO: rhodopsin
  • ROR2: receptor tyrosine kinase-like orphan receptor 2
  • RPE65: retinal pigment epithelium-specific protein 65kDa
  • RPS14: ribosomal protein S14
  • RPS19: ribosomal protein S19
  • RPS26: ribosomal protein S26
  • RPS6KA3: ribosomal protein S6 kinase, 90kDa, polypeptide 3
  • RUNX1: runt related transcription factor 1
  • RUNX1T1: runt related transcription factor 1; translocated to, 1 (cyclin D related)
  • RUNX2: runt-related transcription factor 2
  • RYR1: ryanodine receptor 1
  • RYR2: ryanodine receptor 2
  • SAA1: serum amyloid A1
  • SACS: sacsin molecular chaperone
  • SALL1: spalt-like transcription factor 1
  • SALL4: spalt-like transcription factor 4
  • SAMHD1: SAM domain and HD domain 1
  • SBDS: Shwachman-Bodian-Diamond syndrome
  • SCN10A: sodium channel, voltage gated, type X alpha subunit
  • SCN5A: sodium channel, voltage gated, type V alpha subunit
  • SDHAF2: succinate dehydrogenase complex assembly factor 2
  • SEPSECS: Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
  • 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
  • SETX: senataxin
  • SGOL1: shugoshin-like 1 (S. pombe)
  • SH2D1A: SH2 domain containing 1A
  • SH3BP2: SH3-domain binding protein 2
  • SHANK3: SH3 and multiple ankyrin repeat domains 3
  • SHH: sonic hedgehog
  • SIX1: SIX homeobox 1
  • SIX3: SIX homeobox 3
  • SKI: SKI proto-oncogene
  • SLC11A2: solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
  • SLC25A4: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
  • SLC2A1: solute carrier family 2 (facilitated glucose transporter), member 1
  • SLC30A10: solute carrier family 30 member 10
  • SLC7A7: solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
  • SMAD3: SMAD family member 3
  • SMAD4: SMAD family member 4
  • SMARCA2: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
  • SMARCA4: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
  • SMARCAD1: SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
  • SMARCAL1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
  • SMARCB1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
  • SMARCE1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
  • SMC1A: structural maintenance of chromosomes 1A
  • SMC3: structural maintenance of chromosomes 3
  • SMOC1: SPARC related modular calcium binding 1
  • SMPD1: sphingomyelin phosphodiesterase 1
  • SNAI2: snail family zinc finger 2
  • SNCA: synuclein alpha
  • SOD1: superoxide dismutase 1, soluble
  • SOS1: SOS Ras/Rac guanine nucleotide exchange factor 1
  • SOST: sclerostin
  • SOX10: SRY-box 10
  • SOX2: SRY-box 2
  • SOX9: SRY-box 9
  • SP110: SP110 nuclear body protein
  • SPAST: spastin
  • SPINK5: serine peptidase inhibitor, Kazal type 5
  • SPRED1: sprouty-related, EVH1 domain containing 1
  • SPTLC1: serine palmitoyltransferase long chain base subunit 1
  • SQSTM1: sequestosome 1
  • SRCAP: Snf2-related CREBBP activator protein
  • SRY: sex determining region Y
  • STAMBP: STAM binding protein
  • STAT3: signal transducer and activator of transcription 3 (acute-phase response factor)
  • STAT4: signal transducer and activator of transcription 4
  • STIM1: stromal interaction molecule 1
  • STK11: serine/threonine kinase 11
  • T: T brachyury transcription factor
  • TAF1: TATA-box binding protein associated factor 1
  • TARDBP: TAR DNA binding protein
  • TBP: TATA-box binding protein
  • TBX1: T-box 1
  • TBX5: T-box 5
  • TCF4: transcription factor 4
  • TCIRG1: T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
  • TEK: TEK receptor tyrosine kinase
  • TERT: telomerase reverse transcriptase
  • TET2: tet methylcytosine dioxygenase 2
  • TFAP2A: transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
  • TFAP2B: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
  • TFR2: transferrin receptor 2
  • TG: thyroglobulin
  • TGFB1: transforming growth factor beta 1
  • TGFB2: transforming growth factor beta 2
  • TGFBI: transforming growth factor beta induced
  • TGFBR1: transforming growth factor beta receptor I
  • TGFBR2: transforming growth factor beta receptor II
  • TGIF1: TGFB-induced factor homeobox 1
  • TGM1: transglutaminase 1
  • THAP1: THAP domain containing, apoptosis associated protein 1
  • THPO: thrombopoietin
  • TINF2: TERF1 (TRF1)-interacting nuclear factor 2
  • TMEM127: transmembrane protein 127
  • TMEM173: transmembrane protein 173
  • TMPRSS6: transmembrane protease, serine 6
  • TNFRSF11A: tumor necrosis factor receptor superfamily member 11a
  • TNFRSF11B: tumor necrosis factor receptor superfamily member 11b
  • TNFRSF13B: tumor necrosis factor receptor superfamily member 13B
  • TNFRSF1A: tumor necrosis factor receptor superfamily member 1A
  • TNNI2: troponin I type 2 (skeletal, fast)
  • TOR1A: torsin family 1 member A
  • TP53: tumor protein p53
  • TP63: tumor protein p63
  • TPP1: tripeptidyl peptidase I
  • TRAPPC2: trafficking protein particle complex 2
  • TREM2: triggering receptor expressed on myeloid cells 2
  • TRIP11: thyroid hormone receptor interactor 11
  • TRPM1: transient receptor potential cation channel subfamily M member 1
  • TRPM4: transient receptor potential cation channel subfamily M member 4
  • TRPS1: trichorhinophalangeal syndrome I
  • TRPV4: transient receptor potential cation channel subfamily V member 4
  • TSC1: tuberous sclerosis 1
  • TSC2: tuberous sclerosis 2
  • TSHB: thyroid stimulating hormone beta
  • TSHR: thyroid stimulating hormone receptor
  • TTN: titin
  • TTR: transthyretin
  • TWIST1: twist family bHLH transcription factor 1
  • TYROBP: TYRO protein tyrosine kinase binding protein
  • TYRP1: tyrosinase-related protein 1
  • UBE3A: ubiquitin protein ligase E3A
  • UCHL1: ubiquitin C-terminal hydrolase L1
  • UGT1A1: UDP glucuronosyltransferase 1 family, polypeptide A1
  • UMOD: uromodulin
  • UNC13D: unc-13 homolog D (C. elegans)
  • 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
  • VDR: vitamin D (1,25- dihydroxyvitamin D3) receptor
  • VHL: von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
  • VLDLR: very low density lipoprotein receptor
  • WAS: Wiskott-Aldrich syndrome
  • WFS1: Wolfram syndrome 1 (wolframin)
  • WISP3: WNT1 inducible signaling pathway protein 3
  • WNK1: WNK lysine deficient protein kinase 1
  • WNK4: WNK lysine deficient protein kinase 4
  • WNT3: wingless-type MMTV integration site family member 3
  • WNT4: wingless-type MMTV integration site family member 4
  • WNT5A: wingless-type MMTV integration site family member 5A
  • WRN: Werner syndrome, RecQ helicase-like
  • WT1: Wilms tumor 1
  • XDH: xanthine dehydrogenase
  • XIAP: X-linked inhibitor of apoptosis
  • XPC: xeroderma pigmentosum, complementation group C
  • YARS: tyrosyl-tRNA synthetase
  • YWHAE: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
  • ZAP70: zeta chain of T cell receptor associated protein kinase 70kDa
  • ZEB2: zinc finger E-box binding homeobox 2
  • ZIC2: Zic family member 2

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

 
Published: February 8, 2016