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potassium channel, subfamily V, member 2
Identifiers
Symbols KCNV2; MGC120515; RCD3B
External IDs OMIM607604 MGI2670981 HomoloGene26423 IUPHAR: Kv8.2 GeneCards: KCNV2 Gene
Orthologs
Species Human Mouse
Entrez 169522 240595
Ensembl ENSG00000168263 ENSMUSG00000047298
UniProt n/a n/a
RefSeq (mRNA) NM_133497 NM_183179
RefSeq (protein) NP_598004 NP_899002
Location (UCSC) Chr 9:
2.71 - 2.72 Mb
Chr 19:
27.4 - 27.41 Mb
PubMed search [1] [2]

Potassium voltage-gated channel subfamily V member 2 is a protein that in humans is encoded by the KCNV2 gene.[1][2] The protein encoded by this gene is a voltage-gated potassium channel subunit.[1][2]

References

  1. ^ a b Ottschytsch N, Raes A, Van Hoorick D, Snyders DJ (Jun 2002). "Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome". Proc Natl Acad Sci U S A 99 (12): 7986-91. doi:10.1073/pnas.122617999. PMID 12060745.  
  2. ^ a b Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, Sanguinetti MC, Stuhmer W, Wang X (Dec 2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol Rev 57 (4): 473-508. doi:10.1124/pr.57.4.10. PMID 16382104.  

Further reading

  • Wu H, Cowing JA, Michaelides M, et al. (2006). "Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.". Am. J. Hum. Genet. 79 (3): 574-9. doi:10.1086/507568. PMID 16909397.  
  • Ben Salah S, Kamei S, Sénéćhal A, et al. (2008). "Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.". Am. J. Ophthalmol. 145 (6): 1099-106. doi:10.1016/j.ajo.2008.02.004. PMID 18400204.  
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.  
  • Balijepalli RC, Delisle BP, Balijepalli SY, et al.. "Kv11.1 (ERG1) K+ channels localize in cholesterol and sphingolipid enriched membranes and are modulated by membrane cholesterol.". Channels (Austin) 1 (4): 263-72. PMID 18708743.  
  • Wistow G, Bernstein SL, Wyatt MK, et al. (2002). "Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts.". Mol. Vis. 8: 196-204. PMID 12107411.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Thiagalingam S, McGee TL, Weleber RG, et al. (2007). "Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.". Ophthalmic Genet. 28 (3): 135-42. doi:10.1080/13816810701503681. PMID 17896311.  
  • Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9.". Nature 429 (6990): 369-74. doi:10.1038/nature02465. PMID 15164053.  
  • Wissinger B, Dangel S, Jägle H, et al. (2008). "Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.". Invest. Ophthalmol. Vis. Sci. 49 (2): 751-7. doi:10.1167/iovs.07-0471. PMID 18235024.  

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