KCNV2

KCNV2
Identifiers
Aliases	KCNV2, KV11.1, Kv8.2, RCD3B, potassium voltage-gated channel modifier subfamily V member 2
External IDs	OMIM: 607604; MGI: 2670981; HomoloGene: 26423; GeneCards: KCNV2; OMA:KCNV2 - orthologs
Gene location (Human) Chr. Chromosome 9 (human) Band 9p24.2 Start 2,717,510 bp End 2,730,037 bp
Gene location (Mouse) Chr. Chromosome 19 (mouse) Band 19|19 C1 Start 27,299,988 bp End 27,314,579 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm testicle gonad retinal pigment epithelium right testis left testis sural nerve pancreatic ductal cell right hemisphere of cerebellum ganglionic eminence Top expressed in neural layer of retina outer nuclear layer embryo blastocyst gastrula lumbar subsegment of spinal cord inner nuclear layer zygote lumbar spinal ganglion sternocleidomastoid muscle More reference expression data BioGPS n/a
Gene ontology Molecular function ion channel activity potassium channel activity voltage-gated ion channel activity voltage-gated potassium channel activity Cellular component integral component of membrane voltage-gated potassium channel complex plasma membrane membrane Biological process potassium ion transport regulation of ion transmembrane transport protein homooligomerization ion transport transmembrane transport potassium ion transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 169522 240595 Ensembl ENSG00000168263 ENSMUSG00000047298 UniProt Q8TDN2 Q8CFS6 RefSeq (mRNA) NM_133497 NM_183179 RefSeq (protein) NP_598004 NP_899002 Location (UCSC) Chr 9: 2.72 – 2.73 Mb Chr 19: 27.3 – 27.31 Mb PubMed search
Wikidata
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Potassium voltage-gated channel subfamily V member 2 is a protein that in humans is encoded by the KCNV2 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit.{

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.
• 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.
• 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.
• 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.
• 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.

External links

• Kv8.2+Potassium+Channel at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• KCNV2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)