Regulation of biological quality

Regulation of biological quality

• ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
• ABCA12: ATP-binding cassette, sub-family A (ABC1), member 12
• ABCB7: ATP-binding cassette, sub-family B (MDR/TAP), member 7
• ABCC8: ATP-binding cassette, sub-family C (CFTR/MRP), member 8
• ABCG5: ATP-binding cassette, sub-family G (WHITE), member 5
• ABCG8: ATP-binding cassette, sub-family G (WHITE), member 8
• ABHD5: abhydrolase domain containing 5
• ACADVL: acyl-CoA dehydrogenase, very long chain
• ACE: angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
• ACTB: actin, beta
• ACVRL1: activin A receptor type II-like 1
• ADAMTS13: ADAM metallopeptidase with thrombospondin type 1 motif, 13
• AGT: angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
• AGTR1: angiotensin II receptor, type 1
• AKT1: v-akt murine thymoma viral oncogene homolog 1
• ALAS2: aminolevulinate, delta-, synthase 2
• ALDH5A1: aldehyde dehydrogenase 5 family, member A1
• ALS2: amyotrophic lateral sclerosis 2 (juvenile)
• AMELX: amelogenin, X-linked
• 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 (A4) precursor protein
• APTX: aprataxin
• ARMS2: age-related maculopathy susceptibility 2
• ATP2A1: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
• ATP2A2: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
• ATP2B2: ATPase, Ca++ transporting, plasma membrane 2
• ATP2C1: ATPase, Ca++ transporting, type 2C, member 1
• ATP6V0A2: ATPase, H+ transporting, lysosomal V0 subunit a2
• ATP7A: ATPase, Cu++ transporting, alpha polypeptide
• ATP7B: ATPase, Cu++ transporting, beta polypeptide
• ATP8B1: ATPase, aminophospholipid transporter, class I, type 8B, member 1
• AVPR2: arginine vasopressin receptor 2
• BARD1: BRCA1 associated RING domain 1
• BBS1: Bardet-Biedl syndrome 1
• BBS10: Bardet-Biedl syndrome 10
• BDNF: brain-derived neurotrophic factor
• BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
• 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
• CAPN3: calpain 3, (p94)
• CASQ2: calsequestrin 2 (cardiac muscle)
• CASR: calcium-sensing receptor
• CAV3: caveolin 3
• CD40LG: CD40 ligand
• CDC73: cell division cycle 73
• CDH23: cadherin-related 23
• CDKL5: cyclin-dependent kinase-like 5
• CHAT: choline O-acetyltransferase
• CHD7: chromodomain helicase DNA binding protein 7
• CHEK2: checkpoint kinase 2
• CHRNA4: cholinergic receptor, nicotinic, alpha 4 (neuronal)
• CHRNB2: cholinergic receptor, nicotinic, beta 2 (neuronal)
• CLN3: ceroid-lipofuscinosis, neuronal 3
• COCH: cochlin
• COL1A1: collagen, type I, alpha 1
• COL1A2: collagen, type I, alpha 2
• COL3A1: collagen, type III, alpha 1
• COLQ: collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
• COMT: catechol-O-methyltransferase
• CP: ceruloplasmin (ferroxidase)
• CPS1: carbamoyl-phosphate synthase 1, mitochondrial
• CREBBP: CREB binding protein
• CSF1R: colony stimulating factor 1 receptor
• CTNNB1: catenin (cadherin-associated protein), beta 1, 88kDa
• CYP11B1: cytochrome P450, family 11, subfamily B, polypeptide 1
• CYP11B2: cytochrome P450, family 11, subfamily B, polypeptide 2
• CYP21A2: cytochrome P450, family 21, subfamily A, polypeptide 2
• DFNB31: deafness, autosomal recessive 31
• DICER1: dicer 1, ribonuclease type III
• DKC1: dyskeratosis congenita 1, dyskerin
• DMD: dystrophin
• DMPK: dystrophia myotonica-protein kinase
• DRD3: dopamine receptor D3
• DRD5: dopamine receptor D5
• EDN3: endothelin 3
• EDNRB: endothelin receptor type B
• EGLN1: egl nine homolog 1 (C. elegans)
• 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
• ELANE: elastase, neutrophil expressed
• ENG: endoglin
• EP300: E1A binding protein p300
• ERAP1: endoplasmic reticulum aminopeptidase 1
• F12: coagulation factor XII (Hageman factor)
• F2: coagulation factor II (thrombin)
• F5: coagulation factor V (proaccelerin, labile factor)
• F8: coagulation factor VIII, procoagulant component
• F9: coagulation factor IX
• 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
• FGF23: fibroblast growth factor 23
• FGFR4: fibroblast growth factor receptor 4
• FGG: fibrinogen gamma chain
• FLCN: folliculin
• FLI1: Friend leukemia virus integration 1
• FLNA: filamin A, alpha
• FLNB: filamin B, beta
• FOXC1: forkhead box C1
• FOXC2: forkhead box C2 (MFH-1, mesenchyme forkhead 1)
• FOXP3: forkhead box P3
• FTL: ferritin, light polypeptide
• FXN: frataxin
• FZD4: frizzled family receptor 4
• G6PC: glucose-6-phosphatase, catalytic subunit
• G6PD: glucose-6-phosphate dehydrogenase
• GAA: glucosidase, alpha; acid
• GATA1: GATA binding protein 1 (globin transcription factor 1)
• GCH1: GTP cyclohydrolase 1
• GHRHR: growth hormone releasing hormone receptor
• GJA1: gap junction protein, alpha 1, 43kDa
• GLRA1: glycine receptor, alpha 1
• GNAI3: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
• GNAS: GNAS complex locus
• GSN: gelsolin
• HAX1: HCLS1 associated protein X-1
• HBB: hemoglobin, beta
• HFE: hemochromatosis
• HFE2: hemochromatosis type 2 (juvenile)
• HRAS: v-Ha-ras Harvey rat sarcoma viral oncogene homolog
• HSD17B3: hydroxysteroid (17-beta) dehydrogenase 3
• HSD3B2: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
• IGF2: insulin-like growth factor 2 (somatomedin A)
• INS: insulin
• ITGA6: integrin, alpha 6
• JAK2: Janus kinase 2
• JPH3: junctophilin 3
• KCNE1: potassium voltage-gated channel, Isk-related family, member 1
• KCNH2: potassium voltage-gated channel, subfamily H (eag-related), member 2
• KCNJ11: potassium inwardly-rectifying channel, subfamily J, member 11
• KCNQ1: potassium voltage-gated channel, KQT-like subfamily, member 1
• KIT: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
• KRAS: v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
• KRIT1: KRIT1, ankyrin repeat containing
• KRT1: keratin 1
• L1CAM: L1 cell adhesion molecule
• LAMP2: lysosomal-associated membrane protein 2
• LDLR: low density lipoprotein receptor
• LDLRAP1: low density lipoprotein receptor adaptor protein 1
• LIMK1: LIM domain kinase 1
• LPL: lipoprotein lipase
• LRP5: low density lipoprotein receptor-related protein 5
• LRRK2: leucine-rich repeat kinase 2
• MAPT: microtubule-associated protein tau
• MCOLN1: mucolipin 1
• MFN2: mitofusin 2
• MKKS: McKusick-Kaufman syndrome
• MPL: myeloproliferative leukemia virus oncogene
• MPV17: MpV17 mitochondrial inner membrane protein
• MSX1: msh homeobox 1
• MTMR2: myotubularin related protein 2
• MYH7: myosin, heavy chain 7, cardiac muscle, beta
• MYH9: myosin, heavy chain 9, non-muscle
• NBN: nibrin
• NEB: nebulin
• NF1: neurofibromin 1
• NGF: nerve growth factor (beta polypeptide)
• NLRP12: NLR family, pyrin domain containing 12
• NPC1: Niemann-Pick disease, type C1
• NPC2: Niemann-Pick disease, type C2
• NRAS: neuroblastoma RAS viral (v-ras) oncogene homolog
• OTOF: otoferlin
• PABPN1: poly(A) binding protein, nuclear 1
• PAH: phenylalanine hydroxylase
• PARK7: parkinson protein 7
• PAX2: paired box 2
• PAX6: paired box 6
• PAX8: paired box 8
• PCSK9: proprotein convertase subtilisin/kexin type 9
• PDGFB: platelet-derived growth factor beta polypeptide
• PDGFRA: platelet-derived growth factor receptor, alpha polypeptide
• PKD1: polycystic kidney disease 1 (autosomal dominant)
• PKD2: polycystic kidney disease 2 (autosomal dominant)
• PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive)
• PKP2: plakophilin 2
• PLG: plasminogen
• PLP1: proteolipid protein 1
• PML: promyelocytic leukemia
• PNPLA2: patatin-like phospholipase domain containing 2
• PPT1: palmitoyl-protein thioesterase 1
• PRKAR1A: protein kinase, cAMP-dependent, regulatory, type I, alpha
• PRNP: prion protein
• PROC: protein C (inactivator of coagulation factors Va and VIIIa)
• PROK2: prokineticin 2
• PROS1: protein S (alpha)
• PRX: periaxin
• PSAP: prosaposin
• PSEN1: presenilin 1
• PTEN: phosphatase and tensin homolog
• PTPN11: protein tyrosine phosphatase, non-receptor type 11
• PYGL: phosphorylase, glycogen, liver
• RAB7A: RAB7A, member RAS oncogene family
• RAD50: RAD50 homolog (S. cerevisiae)
• RAF1: v-raf-1 murine leukemia viral oncogene homolog 1
• RASA1: RAS p21 protein activator (GTPase activating protein) 1
• RB1: retinoblastoma 1
• REN: renin
• RPS17: ribosomal protein S17
• RPS19: ribosomal protein S19
• RPS24: ribosomal protein S24
• RYR1: ryanodine receptor 1 (skeletal)
• RYR2: ryanodine receptor 2 (cardiac)
• SAA1: serum amyloid A1
• SBF2: SET binding factor 2
• SCN10A: sodium channel, voltage-gated, type X, alpha subunit
• SCN5A: sodium channel, voltage-gated, type V, alpha subunit
• SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
• SERPINC1: serpin peptidase inhibitor, clade C (antithrombin), member 1
• SERPING1: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
• SHANK3: SH3 and multiple ankyrin repeat domains 3
• SHH: sonic hedgehog
• SKI: v-ski sarcoma viral oncogene homolog (avian)
• SLC1A3: solute carrier family 1 (glial high affinity glutamate transporter), member 3
• SLC22A5: solute carrier family 22 (organic cation/carnitine transporter), member 5
• SLC25A4: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
• SLC26A4: solute carrier family 26, member 4
• SLC2A1: solute carrier family 2 (facilitated glucose transporter), member 1
• SLC37A4: solute carrier family 37 (glucose-6-phosphate transporter), member 4
• SLC40A1: solute carrier family 40 (iron-regulated transporter), member 1
• SLC46A1: solute carrier family 46 (folate transporter), member 1
• SLC5A5: solute carrier family 5 (sodium iodide symporter), member 5
• SLC7A7: solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
• SLC7A9: solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9
• 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
• 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)
• SOX9: SRY (sex determining region Y)-box 9
• SPG20: spastic paraplegia 20 (Troyer syndrome)
• SRD5A2: steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
• STAT3: signal transducer and activator of transcription 3 (acute-phase response factor)
• STK11: serine/threonine kinase 11
• SYNE1: spectrin repeat containing, nuclear envelope 1
• TARDBP: TAR DNA binding protein
• TCIRG1: T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
• TEK: TEK tyrosine kinase, endothelial
• TERT: telomerase reverse transcriptase
• TFAP2B: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
• TFR2: transferrin receptor 2
• TG: thyroglobulin
• TGFB1: transforming growth factor, beta 1
• THPO: thrombopoietin
• TINF2: TERF1 (TRF1)-interacting nuclear factor 2
• TMPRSS3: transmembrane protease, serine 3
• TNFRSF11A: tumor necrosis factor receptor superfamily, member 11a, NFKB activator
• TNNI3: troponin I type 3 (cardiac)
• TP53: tumor protein p53
• TPO: thyroid peroxidase
• TRIOBP: TRIO and F-actin binding protein
• TRPV4: transient receptor potential cation channel, subfamily V, member 4
• TSC1: tuberous sclerosis 1
• TSC2: tuberous sclerosis 2
• TSHB: thyroid stimulating hormone, beta
• TTN: titin
• UGT1A1: UDP glucuronosyltransferase 1 family, polypeptide A1
• VAPB: VAMP (vesicle-associated membrane protein)-associated protein B and C
• VHL: von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
• VWF: von Willebrand factor
• WAS: Wiskott-Aldrich syndrome
• WFS1: Wolfram syndrome 1 (wolframin)
• WNT4: wingless-type MMTV integration site family, member 4
• WRN: Werner syndrome, RecQ helicase-like
• XIAP: X-linked inhibitor of apoptosis
• YWHAE: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

Source: Gene Ontology Consortium.