KCNV2

Protein-coding gene in the species Homo sapiens
KCNV2
Identifiers
AliasesKCNV2, KV11.1, Kv8.2, RCD3B, potassium voltage-gated channel modifier subfamily V member 2
External IDsOMIM: 607604 MGI: 2670981 HomoloGene: 26423 GeneCards: KCNV2
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for KCNV2
Genomic location for KCNV2
Band9p24.2Start2,717,510 bp[1]
End2,730,037 bp[1]
Gene location (Mouse)
Chromosome 19 (mouse)
Chr.Chromosome 19 (mouse)[2]
Chromosome 19 (mouse)
Genomic location for KCNV2
Genomic location for KCNV2
Band19|19 C1Start27,299,988 bp[2]
End27,314,579 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • sperm

  • retinal pigment epithelium

  • testicle

  • sural nerve

  • pancreatic ductal cell

  • ganglionic eminence

  • ovary

  • muscle

  • muscle

  • prefrontal cortex
Top expressed in
  • outer nuclear layer

  • inner nuclear layer

  • blastocyst

  • sternocleidomastoid muscle

  • heart

  • secondary oocyte

  • anterior segment of eyeball

  • lens

  • placenta

  • ear
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
SpeciesHumanMouse
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 MbChr 19: 27.3 – 27.31 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000168263 – Ensembl, May 2017
  2. ^ a b c 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. ^ 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.
  6. ^ 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. S2CID 8716306.
  • 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

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Ligand-gated
Voltage-gated
Constitutively active
Proton-gated
Voltage-gated
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
Miscellaneous
Cl−: Chloride channel
H+: Proton channel
M+: CNG cation channel
M+: TRP cation channel
H2O (+ solutes): Porin
Cytoplasm: Gap junction
By gating mechanism
Ion channel class
see also disorders


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