Potassium Channel, Voltage-Gated, Subfamily V, Member 2

Alternative Names

  • KCNV2
  • KV8.2

Associated Diseases

Retinal Cone Dystrophy 3B
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OMIM Number

607604

NCBI Gene ID

169522

Uniprot ID

Q8TDN2

Length

12,528 bases

No. of Exons

2

Protein Name

Potassium voltage-gated channel subfamily V member 2

Molecular Mass

62459 Da

Amino Acid Count

545

Genomic Location

chr9:2,717,509-2,730,036

Gene Map Locus
9p24.2

Description

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This member is identified as a 'silent subunit', and it does not form homomultimers, but forms heteromultimers with several other subfamily members. Through obligatory heteromerization, it exerts a function-altering effect on other potassium channel subunits. This protein is strongly expressed in pancreas and has a weaker expression in several other tissues. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_133497.4:c.325C>TUnited Arab EmiratesNC_000009.12:g.2718064C>TPathogenicLikely PathogenicRetinal Cone Dystrophy 3BNG_012181.1:g.5539C>T; NM_133497.4:c.325C>T; NP_598004.1:p.Gln109Ter14785873081452213
NM_133497.4:c.427G>TUnited Arab EmiratesNC_000009.12:g.2718166G>TPathogenicLikely Pathogenic, PathogenicRetinal Cone Dystrophy 3BNG_012181.1:g.5641G>T; NM_133497.4:c.427G>T; NP_598004.1:p.Glu143Ter1048941133010
NM_133497.4:c.564G>CUnited Arab EmiratesNC_000009.12:g.2718303G>CLikely PathogenicPathogenicRetinal Cone Dystrophy 3BNG_012181.1:g.5778G>C; NM_133497.4:c.564G>C; NP_598004.1:p.Trp188Cys7729214121468960
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