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

Gene ID: 169522, updated on 17-Mar-2015
Official Symbol
KCNV2provided by HGNC
Official Full Name
potassium channel, voltage gated modifier subfamily V, member 2provided by HGNC
Primary source
HGNC:HGNC:19698
See related
Ensembl:ENSG00000168263; HPRD:12126; MIM:607604; Vega:OTTHUMG00000019449
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]
Orthologs
See KCNV2 in MapViewer
Location:
9p24.2
Exon count:
4
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 9 NC_000009.12 (2717239..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 KIAA0020 Neighboring gene G protein pathway suppressor 2 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Retinal cone dystrophy 3B
MedGen: C1835897 OMIM: 610356 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association analysis of age-at-onset in Alzheimer's disease.
NHGRI GWA Catalog
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
NHGRI GWA Catalog
Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Potassium Channels, organism-specific biosystem (from REACTOME)
    Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
  • Voltage gated Potassium channels, organism-specific biosystem (from REACTOME)
    Voltage gated Potassium channels, organism-specific biosystemVoltage-gated K+ channels (Kv) determine the excitability of heart, brain and skeletal muscle cells. Kv form octameric channel with alpha subunits that forms the pore of the channel and associated be...
Products Interactant Other Gene Complex Source Pubs Description

Homology

Clone Names

  • MGC120515

Gene Ontology Provided by GOA

Function Evidence Code Pubs
delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated potassium channel complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
potassium voltage-gated channel subfamily V member 2
Names
potassium voltage-gated channel subfamily V member 2
potassium channel, subfamily V, member 2
voltage-gated potassium channel subunit Kv8.2

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
    5001..17512
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_133497.3NP_598004.1  potassium voltage-gated channel subfamily V member 2

    See proteins identical to NP_598004.1

    Status: REVIEWED

    Source sequence(s)
    AF348983, BC101352, BC101353, EL952823
    Consensus CDS
    CCDS6447.1
    UniProtKB/Swiss-Prot
    Q8TDN2
    Related
    ENSP00000371514, OTTHUMP00000020986, ENST00000382082, OTTHUMT00000051528
    Conserved Domains (3) summary
    pfam00520
    Location:305484
    Ion_trans; Ion transport protein
    pfam07885
    Location:417492
    Ion_trans_2; Ion channel
    cl02518
    Location:99190
    BTB; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p2 Primary Assembly

    Range
    2717239..2730037
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_929202.1 RNA Sequence

  2. XR_929203.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    2717855..2730366
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)