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    KCNQ4 potassium voltage-gated channel subfamily Q member 4 [ Homo sapiens (human) ]

    Gene ID: 9132, updated on 22-Apr-2024

    Summary

    Official Symbol
    KCNQ4provided by HGNC
    Official Full Name
    potassium voltage-gated channel subfamily Q member 4provided by HGNC
    Primary source
    HGNC:HGNC:6298
    See related
    Ensembl:ENSG00000117013 MIM:603537; AllianceGenome:HGNC:6298
    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
    DFNA2; KV7.4; DFNA2A
    Summary
    The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in endometrium (RPKM 1.8), prostate (RPKM 1.3) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KCNQ4 in Genome Data Viewer
    Location:
    1p34.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (40783787..40840452)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (40653010..40709692)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (41249459..41306124)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene nuclear transcription factor Y subunit gamma Neighboring gene ATAC-STARR-seq lymphoblastoid active region 853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 854 Neighboring gene microRNA 30e Neighboring gene microRNA 30c-1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41253587-41254086 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:41267963-41268147 Neighboring gene RNA, 7SL, cytoplasmic 326, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41279047-41279546 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 735 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41286429-41286930 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:41290219-41291122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41300271-41300796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41305349-41305957 Neighboring gene uncharacterized LOC105378676 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 736 Neighboring gene Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables potassium channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    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 inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in potassium ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in basal plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    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 KQT member 4
    Names
    potassium channel KQT-like 4
    potassium channel subunit alpha KvLQT4
    potassium channel, voltage gated KQT-like subfamily Q, member 4
    potassium voltage-gated channel, KQT-like subfamily, member 4

    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_008139.3 RefSeqGene

      Range
      5001..61666
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1378

    mRNA and Protein(s)

    1. NM_004700.4NP_004691.2  potassium voltage-gated channel subfamily KQT member 4 isoform a

      See identical proteins and their annotated locations for NP_004691.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer and predominant isoform (a).
      Source sequence(s)
      AC119677, AF105202, AK074957, CA411644, DA782056
      Consensus CDS
      CCDS456.1
      UniProtKB/Swiss-Prot
      O96025, P56696
      Related
      ENSP00000262916.6, ENST00000347132.10
      Conserved Domains (4) summary
      pfam00520
      Location:126330
      Ion_trans; Ion transport protein
      pfam03520
      Location:474653
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam06664
      Location:92190
      MIG-14_Wnt-bd; Wnt-binding factor required for Wnt secretion
      pfam07885
      Location:246320
      Ion_trans_2; Ion channel
    2. NM_172163.3NP_751895.1  potassium voltage-gated channel subfamily KQT member 4 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a. There are no publicly available transcripts supporting this variant; it is represented based on data in PMID:10025409.
      Source sequence(s)
      AC119677, AF105202, AK074957, CA411644, DA782056
      UniProtKB/TrEMBL
      H0Y6N7
      Related
      ENSP00000423756.2, ENST00000509682.6
      Conserved Domains (4) summary
      pfam00520
      Location:126330
      Ion_trans; Ion transport protein
      pfam03520
      Location:420599
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam06664
      Location:105190
      MIG-14_Wnt-bd; Wnt-binding factor required for Wnt secretion
      pfam07885
      Location:246320
      Ion_trans_2; Ion channel

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      40783787..40840452
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434057.1XP_047290013.1  potassium voltage-gated channel subfamily KQT member 4 isoform X1

    2. XM_017002792.2XP_016858281.1  potassium voltage-gated channel subfamily KQT member 4 isoform X2

      UniProtKB/TrEMBL
      B3KQH8
      Related
      ENST00000506017.1

    RNA

    1. XR_007064876.1 RNA Sequence

    2. XR_007064877.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      40653010..40709692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339571.1XP_054195546.1  potassium voltage-gated channel subfamily KQT member 4 isoform X1

    2. XM_054339572.1XP_054195547.1  potassium voltage-gated channel subfamily KQT member 4 isoform X2