Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®

Cellular localization

Cellular localization

  • AAAS: achalasia, adrenocortical insufficiency, alacrimia
  • ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
  • ABCA12: ATP-binding cassette, sub-family A (ABC1), member 12
  • ABCC8: ATP-binding cassette, sub-family C (CFTR/MRP), member 8
  • ABCD1: ATP-binding cassette, sub-family D (ALD), member 1
  • AIP: aryl hydrocarbon receptor interacting protein
  • AKT1: v-akt murine thymoma viral oncogene homolog 1
  • ALDH5A1: aldehyde dehydrogenase 5 family, member A1
  • ALMS1: Alstrom syndrome 1
  • AMN: amnion associated transmembrane protein
  • ANG: angiogenin, ribonuclease, RNase A family, 5
  • ANK1: ankyrin 1, erythrocytic
  • 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)
  • ARSB: arylsulfatase B
  • 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
  • ATXN1: ataxin 1
  • BARD1: BRCA1 associated RING domain 1
  • BBS1: Bardet-Biedl syndrome 1
  • BMPR1A: bone morphogenetic protein receptor, type IA
  • CACNA1A: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
  • CACNA1C: calcium channel, voltage-dependent, L type, alpha 1C subunit
  • CALR: calreticulin
  • CAPN3: calpain 3, (p94)
  • CASQ2: calsequestrin 2 (cardiac muscle)
  • CAV3: caveolin 3
  • CDH1: cadherin 1, type 1, E-cadherin (epithelial)
  • CEP290: centrosomal protein 290kDa
  • CHAT: choline O-acetyltransferase
  • CHD7: chromodomain helicase DNA binding protein 7
  • CHM: choroideremia (Rab escort protein 1)
  • CHMP2B: charged multivesicular body protein 2B
  • CHRNA4: cholinergic receptor, nicotinic, alpha 4 (neuronal)
  • CHRNB2: cholinergic receptor, nicotinic, beta 2 (neuronal)
  • CLN3: ceroid-lipofuscinosis, neuronal 3
  • COG5: component of oligomeric golgi complex 5
  • COL1A1: collagen, type I, alpha 1
  • CPT1A: carnitine palmitoyltransferase 1A (liver)
  • CPT2: carnitine palmitoyltransferase 2
  • CSF1R: colony stimulating factor 1 receptor
  • CTNNB1: catenin (cadherin-associated protein), beta 1, 88kDa
  • CTSA: cathepsin A
  • CYLD: cylindromatosis (turban tumor syndrome)
  • DCTN1: dynactin 1
  • DMD: dystrophin
  • DNAJC19: DnaJ (Hsp40) homolog, subfamily C, member 19
  • DNAJC5: DnaJ (Hsp40) homolog, subfamily C, member 5
  • DNM2: dynamin 2
  • DRD3: dopamine receptor D3
  • EDN3: endothelin 3
  • EGR2: early growth response 2
  • EMD: emerin
  • F2: coagulation factor II (thrombin)
  • F5: coagulation factor V (proaccelerin, labile factor)
  • F8: coagulation factor VIII, procoagulant component
  • FBLN5: fibulin 5
  • FGA: fibrinogen alpha chain
  • FGB: fibrinogen beta chain
  • FGF10: fibroblast growth factor 10
  • FGF23: fibroblast growth factor 23
  • FGG: fibrinogen gamma chain
  • FLCN: folliculin
  • FLNA: filamin A, alpha
  • FLNB: filamin B, beta
  • FOXP3: forkhead box P3
  • FTL: ferritin, light polypeptide
  • FZD4: frizzled class receptor 4
  • GAA: glucosidase, alpha; acid
  • GDAP1: ganglioside induced differentiation associated protein 1
  • GHRHR: growth hormone releasing hormone receptor
  • GLRA1: glycine receptor, alpha 1
  • GNAS: GNAS complex locus
  • GPR143: G protein-coupled receptor 143
  • HAX1: HCLS1 associated protein X-1
  • HGSNAT: heparan-alpha-glucosaminide N-acetyltransferase
  • HTT: huntingtin
  • IFT122: intraflagellar transport 122
  • IFT140: intraflagellar transport 140
  • IFT43: intraflagellar transport 43
  • IGF2: insulin-like growth factor 2
  • IL1A: interleukin 1, alpha
  • INS: insulin
  • ITGB2: integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
  • JAK2: Janus kinase 2
  • JPH3: junctophilin 3
  • KCNJ11: potassium inwardly-rectifying channel, subfamily J, member 11
  • KIF1B: kinesin family member 1B
  • KIT: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
  • LAMP2: lysosomal-associated membrane protein 2
  • LDLRAP1: low density lipoprotein receptor adaptor protein 1
  • LEPRE1: leucine proline-enriched proteoglycan (leprecan) 1
  • LMNA: lamin A/C
  • 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
  • MFN2: mitofusin 2
  • MID1: midline 1
  • MKKS: McKusick-Kaufman syndrome
  • MLC1: megalencephalic leukoencephalopathy with subcortical cysts 1
  • MSX1: msh homeobox 1
  • MT-ATP6: mitochondrially encoded ATP synthase 6
  • MTM1: myotubularin 1
  • MTMR2: myotubularin related protein 2
  • MYBPC3: myosin binding protein C, cardiac
  • MYO1A: myosin IA
  • MYO5A: myosin VA (heavy chain 12, myoxin)
  • MYO5B: myosin VB
  • MYO6: myosin VI
  • NCF1: neutrophil cytosolic factor 1
  • NEFH: neurofilament, heavy polypeptide
  • NEFL: neurofilament, light polypeptide
  • NF1: neurofibromin 1
  • NFKBIA: nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
  • 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
  • NPC1: Niemann-Pick disease, type C1
  • NPC2: Niemann-Pick disease, type C2
  • NPM1: nucleophosmin (nucleolar phosphoprotein B23, numatrin)
  • OPA1: optic atrophy 1 (autosomal dominant)
  • OTOF: otoferlin
  • PABPN1: poly(A) binding protein, nuclear 1
  • PAFAH1B1: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
  • PARK2: parkin RBR E3 ubiquitin protein ligase
  • PARK7: parkinson protein 7
  • PAX8: paired box 8
  • PCNT: pericentrin
  • PCSK9: proprotein convertase subtilisin/kexin type 9
  • PDGFB: platelet-derived growth factor beta polypeptide
  • PEX1: peroxisomal biogenesis factor 1
  • PEX7: peroxisomal biogenesis factor 7
  • PIK3CD: phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
  • 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)
  • PLG: plasminogen
  • PML: promyelocytic leukemia
  • PNP: purine nucleoside phosphorylase
  • PRICKLE1: prickle homolog 1 (Drosophila)
  • PRKAG2: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
  • PRKAR1A: protein kinase, cAMP-dependent, regulatory, type I, alpha
  • PROS1: protein S (alpha)
  • PSAP: prosaposin
  • PTCH1: patched 1
  • PTEN: phosphatase and tensin homolog
  • RAB23: RAB23, member RAS oncogene family
  • RAB27A: RAB27A, member RAS oncogene family
  • RAB7A: RAB7A, member RAS oncogene family
  • RB1: retinoblastoma 1
  • RBM8A: RNA binding motif protein 8A
  • RP2: retinitis pigmentosa 2 (X-linked recessive)
  • RPGR: retinitis pigmentosa GTPase regulator
  • RPL11: ribosomal protein L11
  • RPL35A: ribosomal protein L35a
  • RPL5: ribosomal protein L5
  • RPS10: ribosomal protein S10
  • RPS17: ribosomal protein S17
  • RPS19: ribosomal protein S19
  • RPS24: ribosomal protein S24
  • RPS26: ribosomal protein S26
  • RPS7: ribosomal protein S7
  • RYR1: ryanodine receptor 1 (skeletal)
  • RYR2: ryanodine receptor 2 (cardiac)
  • SAA1: serum amyloid A1
  • SAR1B: secretion associated, Ras related GTPase 1B
  • SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
  • SERPING1: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
  • SHANK3: SH3 and multiple ankyrin repeat domains 3
  • SHH: sonic hedgehog
  • SIL1: SIL1 nucleotide exchange factor
  • SIX1: SIX homeobox 1
  • SIX3: SIX homeobox 3
  • SLC25A13: solute carrier family 25 (aspartate/glutamate carrier), member 13
  • SLC25A15: solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
  • SLC25A20: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
  • SLC25A4: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
  • SLC2A1: solute carrier family 2 (facilitated glucose transporter), member 1
  • SMAD3: SMAD family member 3
  • SMAD4: SMAD family member 4
  • SNAI2: snail family zinc finger 2
  • SNCA: synuclein, alpha (non A4 component of amyloid precursor)
  • SNCAIP: synuclein, alpha interacting protein
  • SOD1: superoxide dismutase 1, soluble
  • SPAST: spastin
  • SQSTM1: sequestosome 1
  • STAT3: signal transducer and activator of transcription 3 (acute-phase response factor)
  • SYNE1: spectrin repeat containing, nuclear envelope 1
  • 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
  • TIMM8A: translocase of inner mitochondrial membrane 8 homolog A (yeast)
  • TINF2: TERF1 (TRF1)-interacting nuclear factor 2
  • TMEM173: transmembrane protein 173
  • TOR1A: torsin family 1, member A (torsin A)
  • TP53: tumor protein p53
  • TRAPPC2: trafficking protein particle complex 2
  • TREM2: triggering receptor expressed on myeloid cells 2
  • TRPM1: transient receptor potential cation channel, subfamily M, member 1
  • TRPS1: trichorhinophalangeal syndrome I
  • TSC1: tuberous sclerosis 1
  • TSC2: tuberous sclerosis 2
  • TTN: titin
  • TUBA1A: tubulin, alpha 1a
  • TWIST1: twist family bHLH transcription factor 1
  • UNC13D: unc-13 homolog D (C. elegans)
  • VCP: valosin containing protein
  • VPS13A: vacuolar protein sorting 13 homolog A (S. cerevisiae)
  • VWF: von Willebrand factor
  • WDR19: WD repeat domain 19
  • WDR35: WD repeat domain 35
  • WFS1: Wolfram syndrome 1 (wolframin)
  • WNT4: wingless-type MMTV integration site family, member 4
  • WRN: Werner syndrome, RecQ helicase-like
  • YWHAE: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon

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

 
Published: November 17, 2014