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

    Gene ID: 9132, updated on 5-Nov-2017
    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; Vega:OTTHUMG00000007730
    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
    Location:
    1p34.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (40784012..40840457)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (41249684..41306124)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene nuclear transcription factor Y subunit gamma Neighboring gene microRNA 30e Neighboring gene microRNA 30c-1 Neighboring gene RNA, 7SL, cytoplasmic 326, pseudogene Neighboring gene uncharacterized LOC105378676 Neighboring gene Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Cholinergic synapse, organism-specific biosystem (from KEGG)
      Cholinergic synapse, organism-specific biosystemAcetylcholine (ACh) is a neurotransmitter widely distributed in the central (and also peripheral, autonomic and enteric) nervous system (CNS). In the CNS, ACh facilitates many functions, such as lear...
    • 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

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    potassium channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    voltage-gated potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    potassium ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    basal plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    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 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

    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_008139.1 RefSeqGene

      Range
      5001..61441
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004700.3NP_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
      P56696
      UniProtKB/TrEMBL
      B3KQH8
      Related
      ENSP00000262916.6, OTTHUMP00000009219, ENST00000347132.9, OTTHUMT00000020812
      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_172163.2NP_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/Swiss-Prot
      P56696
      UniProtKB/TrEMBL
      B3KQH8
      Related
      ENSP00000423756.2, OTTHUMP00000220902, ENST00000509682.6, OTTHUMT00000366514
      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: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      40784012..40840457
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002792.1XP_016858281.1  potassium voltage-gated channel subfamily KQT member 4 isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      41365539..41422020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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