Cellular localization

Cellular localization

• AAAS: achalasia, adrenocortical insufficiency, alacrimia
• ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
• ABCC8: ATP-binding cassette, sub-family C (CFTR/MRP), member 8
• ABCD1: ATP-binding cassette, sub-family D (ALD), member 1
• AGXT: alanine-glyoxylate aminotransferase
• AKT1: v-akt murine thymoma viral oncogene homolog 1
• ALDH5A1: aldehyde dehydrogenase 5 family, member A1
• ALMS1: Alstrom syndrome 1
• 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
• ATP2A1: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
• ATP2A2: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
• 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
• CAPN3: calpain 3, (p94)
• CASQ2: calsequestrin 2 (cardiac muscle)
• CAV3: caveolin 3
• CDH1: cadherin 1, type 1, E-cadherin (epithelial)
• CHAT: choline O-acetyltransferase
• CHD7: chromodomain helicase DNA binding protein 7
• 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
• 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)
• DMD: dystrophin
• DNAJC19: DnaJ (Hsp40) homolog, subfamily C, member 19
• 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
• 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 family 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
• HGSNAT: heparan-alpha-glucosaminide N-acetyltransferase
• HTT: huntingtin
• IGF2: insulin-like growth factor 2 (somatomedin A)
• IL1A: interleukin 1, alpha
• INS: insulin
• 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
• 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
• 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
• MYO6: myosin VI
• NCF1: neutrophil cytosolic factor 1
• NEFL: neurofilament, light polypeptide
• NF1: neurofibromin 1
• 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
• 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)
• PAX8: paired box 8
• PCSK9: proprotein convertase subtilisin/kexin type 9
• PDGFB: platelet-derived growth factor beta polypeptide
• PEX1: peroxisomal biogenesis factor 1
• PEX7: peroxisomal biogenesis factor 7
• 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
• RAB23: RAB23, member RAS oncogene family
• RAB7A: RAB7A, member RAS oncogene family
• RB1: retinoblastoma 1
• RBM8A: RNA binding motif protein 8A
• 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: SAR1 homolog B (S. cerevisiae)
• 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 homolog, endoplasmic reticulum chaperone (S. cerevisiae)
• SIX1: SIX homeobox 1
• 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 homolog 2 (Drosophila)
• 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
• TGFBR1: transforming growth factor, beta receptor 1
• TIMM8A: translocase of inner mitochondrial membrane 8 homolog A (yeast)
• TINF2: TERF1 (TRF1)-interacting nuclear factor 2
• TP53: tumor protein p53
• TRAPPC2: trafficking protein particle complex 2
• TRPS1: trichorhinophalangeal syndrome I
• TSC1: tuberous sclerosis 1
• TSC2: tuberous sclerosis 2
• TTN: titin
• TWIST1: twist basic helix-loop-helix 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
• 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 polypeptide

Source: Gene Ontology Consortium.