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    KCNQ5 potassium voltage-gated channel subfamily Q member 5 [ Homo sapiens (human) ]

    Gene ID: 56479, updated on 11-Apr-2024

    Summary

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    Official Symbol
    KCNQ5provided by HGNC
    Official Full Name
    potassium voltage-gated channel subfamily Q member 5provided by HGNC
    Primary source
    HGNC:HGNC:6299
    See related
    Ensembl:ENSG00000185760 MIM:607357; AllianceGenome:HGNC:6299
    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
    Kv7.5; MRD46
    Summary
    This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
    Expression
    Biased expression in brain (RPKM 8.7), thyroid (RPKM 2.7) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KCNQ5 in Genome Data Viewer
    Location:
    6q13
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (72622064..73198853)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (73798716..74375478)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (73331792..73908576)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene DNA polymerase delta 1, catalytic subunit pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24737 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:73332477-73333428 Neighboring gene HORMA domain containing 1 pseudogene Neighboring gene KCNQ5 divergent transcript Neighboring gene KCNQ5 intronic transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17331 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24739 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24740 Neighboring gene uncharacterized LOC124901340 Neighboring gene uncharacterized LOC105377855 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:73703538-73704132 Neighboring gene microRNA 4282 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:73741922-73743121 Neighboring gene lysine rich nucleolar protein 1 pseudogene 4 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:73785794-73786726 Neighboring gene phosphoglycerate mutase 1 pseudogene 10 Neighboring gene KCNQ5 antisense RNA 1 Neighboring gene RBPMS2 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:73913855-73914676 Neighboring gene KHDC1-KHDC1L Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:73933575-73934774 Neighboring gene KH domain containing 1 pseudogene 1 Neighboring gene KH domain containing 1 like

    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. Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies. Krüger J, et al. EBioMedicine, 2022 Oct. PMID 36088682, Free PMC Article
    2. Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability. Wei AD, et al. J Neurophysiol, 2022 Jul 1. PMID 35583973, Free PMC Article
    3. Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy. Nappi M, et al. Proc Natl Acad Sci U S A, 2022 Apr 12. PMID 35377796, Free PMC Article
    4. Mechanisms of PKA-Dependent Potentiation of Kv7.5 Channel Activity in Human Airway Smooth Muscle Cells. Brueggemann LI, et al. Int J Mol Sci, 2018 Jul 30. PMID 30061510, Free PMC Article
    5. Genetic Association Study of KCNQ5 Polymorphisms with High Myopia. Liao X, et al. Biomed Res Int, 2017. PMID 28884119, Free PMC Article

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.
      Title: Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.
    2. Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
      Title: Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
    3. Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.
      Title: Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.
    4. Remodeling of Kv7.1 and Kv7.5 Expression in Vascular Tumors.
      Title: Remodeling of Kv7.1 and Kv7.5 Expression in Vascular Tumors.
    5. Distinct functional domains were identified that confer differential sensitivities of Kv7.5 and Kv7.4 to stimulatory and inhibitory signaling.
      Title: Structural Determinants of Kv7.5 Potassium Channels That Confer Changes in Phosphatidylinositol 4,5-Bisphosphate (PIP(2)) Affinity and Signaling Sensitivities in Smooth Muscle Cells.
    6. Phylogenetic analysis, electrostatic potential mapping, in silico docking, electrophysiology, and radioligand binding assays reveal that the anticonvulsant binding pocket evolved to accommodate endogenous neurotransmitters including gamma-aminobutyric acid, which directly activates KCNQ5 and KCNQ3 via W265.
      Title: Direct neurotransmitter activation of voltage-gated potassium channels.
    7. Phosphorylation of S53 on the amino terminus of Kv7.5 is essential for protein kinase A-dependent enhancement of channel activity in response to beta adrenergic receptor activation in vascular and airway smooth muscle cells.
      Title: Mechanisms of PKA-Dependent Potentiation of Kv7.5 Channel Activity in Human Airway Smooth Muscle Cells.
    8. identified P2RX2, KCNQ5, ERBB3 and SOCS3 to be associated with the progression of age-related hearing impairment
      Title: Down-expression of P2RX2, KCNQ5, ERBB3 and SOCS3 through DNA hypermethylation in elderly women with presbycusis.
    9. Our data support the involvement of KCNQ5 gene polymorphisms in the genetic susceptibility to high myopia and further exploration of KCNQ5 as a risk factor for high myopia.
      Title: Genetic Association Study of KCNQ5 Polymorphisms with High Myopia.
    10. These findings provide the first evidence linking PKC activation to suppression of Kv7 currents, membrane depolarization, and Ca(2+) influx via L-type voltage-sensitive Ca(2+) channels as a mechanism for histamine-induced bronchoconstriction.
      Title: PKC-dependent regulation of Kv7.5 channels by the bronchoconstrictor histamine in human airway smooth muscle cells.
    Submit: New GeneRIF Correction See all GeneRIFs (26)

    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

    Associated conditions

    Description Tests
    Intellectual disability, autosomal dominant 46
    MedGen: C4539851 OMIM: 617601 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 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 
    enables voltage-gated potassium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in potassium ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of clathrin coat IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  
    part_of voltage-gated potassium channel complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    potassium voltage-gated channel subfamily KQT member 5
    Names
    KQT-like 5
    potassium channel protein
    potassium channel subunit alpha KvLQT5
    potassium channel, voltage gated KQT-like subfamily Q, member 5
    voltage-gated potassium channel subunit Kv7.5

    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_047170.1 RefSeqGene

      Range
      5785..582574
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001160130.2 → NP_001153602.1  potassium voltage-gated channel subfamily KQT member 5 isoform 2

      See identical proteins and their annotated locations for NP_001153602.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons in the central coding region, compared to variant 4. The resulting isoform (2), also known as II, lacks an internal segment compared to isoform 4.
      Source sequence(s)
      AL365232, BC117359, FO393414
      Consensus CDS
      CCDS55037.1
      UniProtKB/TrEMBL
      F8WEA4
      Related
      ENSP00000485743.1, ENST00000629977.2
      Conserved Domains (3) summary
      pfam00520
      Location:160 → 358
      Ion_trans; Ion transport protein
      pfam03520
      Location:444 → 631
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:274 → 348
      Ion_trans_2; Ion channel

    2. NM_001160132.2 → NP_001153604.1  potassium voltage-gated channel subfamily KQT member 5 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 4. The resulting isoform (3), also known as III, lacks an internal segment compared to isoform 4.
      Source sequence(s)
      AL360236, AL365232, FO393414
      UniProtKB/TrEMBL
      F8WEA4
      Conserved Domains (3) summary
      pfam00520
      Location:160 → 358
      Ion_trans; Ion transport protein
      pfam03520
      Location:463 → 650
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:274 → 348
      Ion_trans_2; Ion channel

    3. NM_001160133.2 → NP_001153605.1  potassium voltage-gated channel subfamily KQT member 5 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (4).
      Source sequence(s)
      AL360236, AL365232, FO393414
      Consensus CDS
      CCDS55034.1
      UniProtKB/TrEMBL
      F8WEA4
      Related
      ENSP00000345055.2, ENST00000342056.6
      Conserved Domains (3) summary
      pfam00520
      Location:160 → 358
      Ion_trans; Ion transport protein
      pfam03520
      Location:472 → 659
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:274 → 348
      Ion_trans_2; Ion channel

    4. NM_001160134.2 → NP_001153606.1  potassium voltage-gated channel subfamily KQT member 5 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks three alternate in-frame exons in the central coding region, compared to variant 4. The resulting isoform (5) lacks an internal segment, compared to isoform 4.
      Source sequence(s)
      AF202977, AK299550, AL365232, FO393414
      Consensus CDS
      CCDS55035.1
      UniProtKB/TrEMBL
      F8WEA4
      Related
      ENSP00000486187.1, ENST00000628967.2
      Conserved Domains (3) summary
      pfam00520
      Location:160 → 358
      Ion_trans; Ion transport protein
      pfam03520
      Location:416 → 530
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:274 → 348
      Ion_trans_2; Ion channel

    5. NM_019842.4 → NP_062816.2  potassium voltage-gated channel subfamily KQT member 5 isoform 1

      See identical proteins and their annotated locations for NP_062816.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon in the central coding region, compared to variant 4. The resulting isoform (1) lacks an internal segment, compared to isoform 4.
      Source sequence(s)
      AF249278, AK299550, AL365232, FO393414
      Consensus CDS
      CCDS4976.1
      UniProtKB/Swiss-Prot
      A6NKT6, A6PVT6, A8MSQ5, B4DS33, B5MC83, B7ZL37, F5GZV0, Q17RE1, Q5VVP3, Q86W40, Q9NR82, Q9NRN0, Q9NYA6
      UniProtKB/TrEMBL
      F8WEA4
      Related
      ENSP00000359425.1, ENST00000370398.6
      Conserved Domains (3) summary
      pfam00520
      Location:160 → 358
      Ion_trans; Ion transport protein
      pfam03520
      Location:453 → 640
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:274 → 348
      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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      72622064..73198853
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419077.1 → XP_047275033.1  potassium voltage-gated channel subfamily KQT member 5 isoform X1

    2. XM_024446493.2 → XP_024302261.1  potassium voltage-gated channel subfamily KQT member 5 isoform X4

      Conserved Domains (1) summary
      pfam00520
      Location:126 → 358
      Ion_trans; Ion transport protein

    3. XM_017011058.2 → XP_016866547.1  potassium voltage-gated channel subfamily KQT member 5 isoform X2

    4. XM_024446492.2 → XP_024302260.1  potassium voltage-gated channel subfamily KQT member 5 isoform X3

      Related
      ENSP00000359419.1, ENST00000370392.5
      Conserved Domains (1) summary
      pfam00520
      Location:126 → 358
      Ion_trans; Ion transport protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      73798716..74375478
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355933.1 → XP_054211908.1  potassium voltage-gated channel subfamily KQT member 5 isoform X1

    2. XM_054355936.1 → XP_054211911.1  potassium voltage-gated channel subfamily KQT member 5 isoform X4

    3. XM_054355934.1 → XP_054211909.1  potassium voltage-gated channel subfamily KQT member 5 isoform X2

    4. XM_054355935.1 → XP_054211910.1  potassium voltage-gated channel subfamily KQT member 5 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NR82.3 GenPept UniProtKB/Swiss-Prot:Q9NR82

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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