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KCNV2 Identifiers Aliases KCNV2 , KV11.1, Kv8.2, RCD3B, potassium voltage-gated channel modifier subfamily V member 2External 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 27,299,988 bp [2] End 27,314,579 bp [2]
Gene ontology Molecular function Cellular component Biological process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez Ensembl UniProt RefSeq (mRNA) RefSeq (protein) Location (UCSC) Chr 9: 2.72 – 2.73 Mb Chr 19: 27.3 – 27.31 Mb PubMed search[3] [4] Wikidata
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 [ ]
^ a b c GRCh38: Ensembl release 89: ENSG00000168263 - Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000047298 - Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ 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. Bibcode :2002PNAS...99.7986O . doi :10.1073/pnas.122617999 . PMC 123007 . PMID 12060745 .
^ 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 . 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 [ ]
Ligand-gated Voltage-gated
α2 δ-subunits
β-subunits
γ-subunits
Na+ : Sodium channel
Constitutively active
Epithelial sodium channel
Proton -gated
Amiloride-sensitive cation channel
Voltage-gated
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1.1
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1.3
1.4
1.5
1.6
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1.8
1.9
7A
Nav β
K+ : Potassium channel
Calcium-activated Inward-rectifier Tandem pore domain Voltage-gated
Miscellaneous
Cl− : Chloride channel
Calcium-activated chloride channels
Anoctamin
Bestrophin
Chloride Channel Accessory
CFTR
CLCN
CLIC
CLNS
H+ : Proton channel M+ : CNG cation channel M+ : TRP cation channel H2 O (+ solutes ): Porin Cytoplasm : Gap junction
see also disorders
Categories :
Genes on human chromosome 9 Ion channels Membrane protein stubs