KCNV2
From Wikipedia, the free encyclopedia
| Potassium channel, subfamily V, member 2 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | KCNV2; KV11.1; Kv8.2; MGC120515; RCD3B | ||||||||||||
| External IDs | OMIM: 607604 MGI: 2670981 HomoloGene: 26423 IUPHAR: Kv8.2 GeneCards: KCNV2 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 169522 | 240595 | |||||||||||
| Ensembl | ENSG00000168263 | ENSMUSG00000047298 | |||||||||||
| UniProt | Q8TDN2 | Q8CFS6 | |||||||||||
| RefSeq (mRNA) | NM_133497 | NM_183179.1 | |||||||||||
| RefSeq (protein) | NP_598004 | NP_899002.1 | |||||||||||
| Location (UCSC) | Chr 9: 2.72 – 2.73 Mb |
Chr 19: 27.4 – 27.41 Mb |
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| 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]
[edit] References
- ^ 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. PMC 123007. PMID 12060745. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=123007.
- ^ 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.
[edit] 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. PMC 1559534. PMID 16909397. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1559534.
- 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. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Balijepalli RC, Delisle BP, Balijepalli SY, et al. (2007). "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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- 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. PMC 2734081. PMID 15164053. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2734081.
- 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.
[edit] External links
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