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
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9p24.2 Start 2,717,510 bp [1] End 2,730,037 bp [1]
Gene location (Mouse) Chr. Chromosome 19 (mouse) [2] Band 19|19 C1 Start 27,322,588 bp [2] End 27,337,179 bp [2]
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: 27.32 – 27.34 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Potassium voltage-gated channel subfamily V member 2 is a protein that in humans is encoded by the KCNV2 gene. ^{[5] [6]} The protein encoded by this gene is a voltage-gated potassium channel subunit. ^{[5] [6]} {

References

1. GRCh38: Ensembl release 89: ENSG00000168263 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000047298 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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. Bibcode:2002PNAS...99.7986O. doi: 10.1073/pnas.122617999 . PMC   123007 . PMID   12060745.
6. 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. S2CID   219195192.

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. doi: 10.4161/chan.4946 . 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. Bibcode:2002PNAS...9916899M. 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. S2CID   6288000.
• Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. Bibcode:2004Natur.429..369H. 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 US National Library of Medicine Medical Subject Headings (MeSH)
• KCNV2+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)