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

    Gene ID: 9132, updated on 27-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See KCNQ4 in Genome Data Viewer
    Location:
    1p34.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (40783787..40840452)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (40653010..40709692)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression. Mencía A, et al. Hum Genet, 2008 Feb. PMID 18030493
    2. Absence of KCNQ4 mutation in Bengali families with ADNSHL originated from West Bengal, India. Adhikary B, et al. Int J Pediatr Otorhinolaryngol, 2017 Sep. PMID 28802383
    3. KCNQ4: a gene for age-related hearing impairment? Van Eyken E, et al. Hum Mutat, 2006 Oct. PMID 16917933
    4. Synergistic interplay of Gβγ and phosphatidylinositol 4,5-bisphosphate dictates Kv7.4 channel activity. Povstyan OV, et al. Pflugers Arch, 2017 Feb. PMID 27981364, Free PMC Article
    5. K(V)7 channels in the human detrusor: channel modulator effects and gene and protein expression. Bientinesi R, et al. Naunyn Schmiedebergs Arch Pharmacol, 2017 Feb. PMID 27761601

    See all (85) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4.
      Title: Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4.
    2. A novel variant c.902C>A (p. A301D) in KCNQ4 associated with non-syndromic deafness 2A in a Chinese family.
      Title: A novel variant c.902C>A (p. A301D) in KCNQ4 associated with non-syndromic deafness 2A in a Chinese family.
    3. Natural History of KCNQ4 p.G285S Related Hearing Loss, Construction of iPSC and Mouse Model.
      Title: Natural History of KCNQ4 p.G285S Related Hearing Loss, Construction of iPSC and Mouse Model.
    4. Comprehensive pan-cancer analysis of potassium voltage-gated channel Q4 (KCNQ4) gene across multiple human malignant tumors.
      Title: Comprehensive pan‑cancer analysis of potassium voltage-gated channel Q4 (KCNQ4) gene across multiple human malignant tumors.
    5. Overlooked KCNQ4 variants augment the risk of hearing loss.
      Title: Overlooked KCNQ4 variants augment the risk of hearing loss.
    6. [The genotype-phenotype correlation analysis and genetic counseling of hearing loss patients with novel KCNQ4 mutations].
      Title: [The genotype-phenotype correlation analysis and genetic counseling of hearing loss patients with novel KCNQ4 mutations].
    7. A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel KCNQ4 mutation (p.G228D) from a large Chinese family.
      Title: A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel KCNQ4 mutation (p.G228D) from a large Chinese family.
    8. Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss.
      Title: Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss.
    9. Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.
      Title: Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.
    10. A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population.
      Title: A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population.
    Submit: New GeneRIF Correction See all GeneRIFs (69)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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
    		  
    enables voltage-gated potassium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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

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    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)

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    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_004700.4 → NP_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:126 → 330
      Ion_trans; Ion transport protein
      pfam03520
      Location:474 → 653
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam06664
      Location:92 → 190
      MIG-14_Wnt-bd; Wnt-binding factor required for Wnt secretion
      pfam07885
      Location:246 → 320
      Ion_trans_2; Ion channel

    2. NM_172163.3 → NP_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:126 → 330
      Ion_trans; Ion transport protein
      pfam03520
      Location:420 → 599
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam06664
      Location:105 → 190
      MIG-14_Wnt-bd; Wnt-binding factor required for Wnt secretion
      pfam07885
      Location:246 → 320
      Ion_trans_2; Ion channel

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_047434057.1 → XP_047290013.1  potassium voltage-gated channel subfamily KQT member 4 isoform X1

    2. XM_017002792.2 → XP_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_054339571.1 → XP_054195546.1  potassium voltage-gated channel subfamily KQT member 4 isoform X1

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

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P56696.2 GenPept UniProtKB/Swiss-Prot:P56696

    Gene LinkOut

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