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KCNV2 potassium voltage-gated channel modifier subfamily V member 2 [ Homo sapiens (human) ]

Gene ID: 169522, updated on 22-Aug-2020

Summary

Official Symbol
KCNV2provided by HGNC
Official Full Name
potassium voltage-gated channel modifier subfamily V member 2provided by HGNC
Primary source
HGNC:HGNC:19698
See related
Ensembl:ENSG00000168263 MIM:607604
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Kv8.2; RCD3B; KV11.1
Summary
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. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward testis (RPKM 2.7) See more
Orthologs

Genomic context

See KCNV2 in Genome Data Viewer
Location:
9p24.2
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (2717510..2730037)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (2717526..2730037)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene VLDLR antisense RNA 1 Neighboring gene uncharacterized LOC105375957 Neighboring gene very low density lipoprotein receptor Neighboring gene pumilio RNA binding family member 3 Neighboring gene Sharpr-MPRA regulatory region 29 Neighboring gene G protein pathway suppressor 2 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cone dystrophy with supernormal rod response
MedGen: C1835897 OMIM: 610356 GeneReviews: Not available
Compare labs
Genome-wide association analysis of age-at-onset in Alzheimer's disease.
GeneReviews: Not available
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
GeneReviews: Not available
Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC120515

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
potassium voltage-gated channel subfamily V member 2
Names
potassium channel, subfamily V, member 2
potassium channel, voltage gated modifier subfamily V, member 2
voltage-gated potassium channel subunit Kv8.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012181.1 RefSeqGene

    Range
    4985..17512
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_133497.4NP_598004.1  potassium voltage-gated channel subfamily V member 2

    See identical proteins and their annotated locations for NP_598004.1

    Status: REVIEWED

    Source sequence(s)
    AF348983, AL354723, BC101352, BC101353, EL952823
    Consensus CDS
    CCDS6447.1
    UniProtKB/Swiss-Prot
    Q8TDN2
    Related
    ENSP00000371514.3, ENST00000382082.4
    Conserved Domains (2) summary
    pfam00520
    Location:266504
    Ion_trans; Ion transport protein
    cl02518
    Location:99190
    BTB; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    2717510..2730037
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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