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

    Gene ID: 169522, updated on 1-Mar-2024

    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; AllianceGenome:HGNC:19698
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See KCNV2 in Genome Data Viewer
    Location:
    9p24.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (2717510..2730037)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (2720267..2732772)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (2717510..2730037)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr9:2548993-2549494 Neighboring gene VLDLR antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28137 Neighboring gene Sharpr-MPRA regulatory region 6053 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19733 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19736 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19737 Neighboring gene uncharacterized LOC105375957 Neighboring gene very low density lipoprotein receptor Neighboring gene NANOG hESC enhancer GRCh37_chr9:2677398-2677906 Neighboring gene Sharpr-MPRA regulatory region 5035 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:2808488-2809363 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:2811115-2811988 Neighboring gene Sharpr-MPRA regulatory region 9529 Neighboring gene pumilio RNA binding family member 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:2843124-2843685 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

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of age-at-onset in Alzheimer's disease.
    EBI GWAS Catalog
    Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
    EBI GWAS Catalog
    Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • MGC120515

    Gene Ontology Provided by GOA

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

    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)

    NEW Try the new Transcript table

    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
      Q5T6X0, 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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      2720267..2732772
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)