Establishment of localization in cell
- 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
- ALDH5A1: aldehyde dehydrogenase 5 family, member A1
- ANG: angiogenin, ribonuclease, RNase A family, 5
- ANK1: ankyrin 1, erythrocytic
- APOE: apolipoprotein E
- APP: amyloid beta (A4) precursor protein
- ARSB: arylsulfatase B
- 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
- 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
- CPT1A: carnitine palmitoyltransferase 1A (liver)
- CPT2: carnitine palmitoyltransferase 2
- CTSA: cathepsin A
- 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
- F5: coagulation factor V (proaccelerin, labile factor)
- F8: coagulation factor VIII, procoagulant component
- FGA: fibrinogen alpha chain
- FGB: fibrinogen beta chain
- FGF23: fibroblast growth factor 23
- FGG: fibrinogen gamma chain
- FLNA: filamin A, alpha
- FOXP3: forkhead box P3
- FTL: ferritin, light polypeptide
- FZD4: frizzled family receptor 4
- 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
- IL1A: interleukin 1, alpha
- INS: insulin
- JAK2: Janus kinase 2
- KCNJ11: potassium inwardly-rectifying channel, subfamily J, member 11
- KIF1B: kinesin family member 1B
- LAMP2: lysosomal-associated membrane protein 2
- LDLRAP1: low density lipoprotein receptor adaptor protein 1
- LRP5: low density lipoprotein receptor-related protein 5
- 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
- MT-ATP6: mitochondrially encoded ATP synthase 6
- MTM1: myotubularin 1
- MTMR2: myotubularin related protein 2
- MYO6: myosin VI
- NCF1: neutrophil cytosolic factor 1
- NEFL: neurofilament, light polypeptide
- NF1: neurofibromin 1
- 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)
- 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 (tissue specific extinguisher 1)
- PROS1: protein S (alpha)
- PSAP: prosaposin
- PTCH1: patched 1
- RAB7A: RAB7A, member RAS oncogene family
- RB1: retinoblastoma 1
- 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
- SIL1: SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)
- 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)
- 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)
- 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 homolog 1 (Drosophila)
- 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)
- WRN: Werner syndrome, RecQ helicase-like
Source: Gene Ontology Consortium
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