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Plasma membrane region

Plasma membrane region

  • ABCA4: ATP binding cassette subfamily A member 4
  • ABCB4: ATP binding cassette subfamily B member 4
  • ABCC2: ATP binding cassette subfamily C member 2
  • ABCG5: ATP binding cassette subfamily G member 5
  • ABCG8: ATP binding cassette subfamily G member 8
  • AMN: amnion associated transmembrane protein
  • ANK1: ankyrin 1
  • ANK2: ankyrin 2, neuronal
  • APC: adenomatous polyposis coli
  • AQP2: aquaporin 2
  • ATP6V0A4: ATPase, H+ transporting, lysosomal V0 subunit a4
  • ATP6V1B1: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
  • ATP7A: ATPase, Cu++ transporting, alpha polypeptide
  • ATP7B: ATPase, Cu++ transporting, beta polypeptide
  • ATP8B1: ATPase, aminophospholipid transporter, class I, type 8B, member 1
  • BEST1: bestrophin 1
  • BMPR1A: bone morphogenetic protein receptor type IA
  • BMPR2: bone morphogenetic protein receptor type II
  • BSND: barttin CLCNK-type chloride channel accessory beta subunit
  • CASK: calcium/calmodulin-dependent serine protein kinase (MAGUK family)
  • CAV1: caveolin 1
  • CDH1: cadherin 1
  • CDKL5: cyclin dependent kinase like 5
  • CFTR: cystic fibrosis transmembrane conductance regulator
  • CLN3: ceroid-lipofuscinosis, neuronal 3
  • CTNNB1: catenin beta 1
  • CUBN: cubilin
  • DMD: dystrophin
  • DNM2: dynamin 2
  • DRD5: dopamine receptor D5
  • EGFR: epidermal growth factor receptor
  • ENPP1: ectonucleotide pyrophosphatase/phosphodiesterase 1
  • EPCAM: epithelial cell adhesion molecule
  • EVC: Ellis van Creveld protein
  • EVC2: Ellis van Creveld syndrome 2
  • FOLR1: folate receptor 1 (adult)
  • GNAT1: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
  • GNAT2: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
  • GPR143: G protein-coupled receptor 143
  • GRM6: glutamate receptor, metabotropic 6
  • GUCY2D: guanylate cyclase 2D, membrane (retina-specific)
  • INSR: insulin receptor
  • ITGB3: integrin subunit beta 3
  • JAG1: jagged 1
  • JAK2: Janus kinase 2
  • KCNA1: potassium channel, voltage gated shaker related subfamily A, member 1
  • KCNE1: potassium channel, voltage gated subfamily E regulatory beta subunit 1
  • KCNQ1: potassium channel, voltage gated KQT-like subfamily Q, member 1
  • LDLR: low density lipoprotein receptor
  • LDLRAP1: low density lipoprotein receptor adaptor protein 1
  • LRP2: LDL receptor related protein 2
  • LRRK2: leucine-rich repeat kinase 2
  • MLC1: megalencephalic leukoencephalopathy with subcortical cysts 1
  • MTMR2: myotubularin related protein 2
  • NOD2: nucleotide binding oligomerization domain containing 2
  • NOTCH1: notch 1
  • OPN1MW: opsin 1 (cone pigments), medium-wave-sensitive
  • OPN1SW: opsin 1 (cone pigments), short-wave-sensitive
  • PDE6B: phosphodiesterase 6B
  • PDGFB: platelet derived growth factor subunit B
  • PDGFRB: platelet derived growth factor receptor beta
  • PFKM: phosphofructokinase, muscle
  • 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)
  • PRKAR1A: protein kinase cAMP-dependent type I regulatory subunit alpha
  • PSEN2: presenilin 2
  • PTCH1: patched 1
  • PTEN: phosphatase and tensin homolog
  • PTRF: polymerase I and transcript release factor
  • RHO: rhodopsin
  • SCN5A: sodium channel, voltage gated, type V alpha subunit
  • SCNN1A: sodium channel, non voltage gated 1 alpha subunit
  • SGCE: sarcoglycan epsilon
  • SHANK3: SH3 and multiple ankyrin repeat domains 3
  • SLC11A2: solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
  • SLC12A1: solute carrier family 12 (sodium/potassium/chloride transporter), member 1
  • SLC12A3: solute carrier family 12 (sodium/chloride transporter), member 3
  • SLC12A6: solute carrier family 12 (potassium/chloride transporter), member 6
  • SLC22A12: solute carrier family 22 (organic anion/urate transporter), member 12
  • SLC22A5: solute carrier family 22 (organic cation/carnitine transporter), member 5
  • SLC26A4: solute carrier family 26 (anion exchanger), member 4
  • SLC34A2: solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
  • SLC3A1: solute carrier family 3 (amino acid transporter heavy chain), member 1
  • SLC40A1: solute carrier family 40 (iron-regulated transporter), member 1
  • SLC46A1: solute carrier family 46 (folate transporter), member 1
  • SLC4A1: solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
  • SLC6A3: solute carrier family 6 (neurotransmitter transporter), member 3
  • SLC7A9: solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
  • SYNE1: spectrin repeat containing, nuclear envelope 1
  • TCIRG1: T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
  • TEK: TEK receptor tyrosine kinase
  • TGFBR2: transforming growth factor beta receptor II
  • TRPV4: transient receptor potential cation channel subfamily V member 4
  • UMOD: uromodulin
  • USH2A: Usher syndrome 2A (autosomal recessive, mild)

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

 
Published: February 1, 2016