Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 56479, updated on 8-Jul-2018
    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; Vega:OTTHUMG00000015020
    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
    See KCNQ5 in Genome Data Viewer
    Location:
    6q13
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (72621843..73198851)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (73331571..73908574)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene DNA polymerase delta 1, catalytic subunit pseudogene Neighboring gene uncharacterized LOC112267960 Neighboring gene HORMA domain containing 1 pseudogene Neighboring gene KCNQ5 intronic transcript 1 Neighboring gene uncharacterized LOC107984120 Neighboring gene uncharacterized LOC105377855 Neighboring gene uncharacterized protein C9orf85-like Neighboring gene microRNA 4282 Neighboring gene lysine rich nucleolar protein 1 pseudogene 4 Neighboring gene phosphoglycerate mutase 1 pseudogene 10 Neighboring gene KCNQ5 antisense RNA 1 Neighboring gene RBPMS2 pseudogene 1 Neighboring gene KH domain containing 1 pseudogene 1 Neighboring gene KH domain containing 1 like

    • 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?

    Associated conditions

    Description Tests
    MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
    MedGen: C4539851 OMIM: 617601 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
    NHGRI GWA Catalog
    • 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
    calmodulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    delayed rectifier potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    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
    PubMed 
    voltage-gated potassium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    voltage-gated potassium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    potassium ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    clathrin coat IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    voltage-gated potassium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    voltage-gated potassium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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
      5564..582572
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001160130.1NP_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, BF513800, DA801374
      Consensus CDS
      CCDS55037.1
      UniProtKB/Swiss-Prot
      Q9NR82
      Related
      ENSP00000485743.1, OTTHUMP00000279376, ENST00000629977.2, OTTHUMT00000484423
      Conserved Domains (3) summary
      pfam00520
      Location:160358
      Ion_trans; Ion transport protein
      pfam03520
      Location:444631
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:274348
      Ion_trans_2; Ion channel
    2. NM_001160132.1NP_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, BF513800, FO393414
      UniProtKB/Swiss-Prot
      Q9NR82
      Related
      ENSP00000385501.3, ENST00000402622.6
      Conserved Domains (3) summary
      pfam00520
      Location:160358
      Ion_trans; Ion transport protein
      pfam03520
      Location:463650
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:274348
      Ion_trans_2; Ion channel
    3. NM_001160133.1NP_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, BF513800, FO393414
      Consensus CDS
      CCDS55034.1
      UniProtKB/Swiss-Prot
      Q9NR82
      Related
      ENSP00000345055.2, OTTHUMP00000196167, ENST00000342056.6, OTTHUMT00000316124
      Conserved Domains (3) summary
      pfam00520
      Location:160358
      Ion_trans; Ion transport protein
      pfam03520
      Location:472659
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:274348
      Ion_trans_2; Ion channel
    4. NM_001160134.1NP_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)
      AK299550, AL365232, BC143555, BF513800, DA801374
      Consensus CDS
      CCDS55035.1
      UniProtKB/Swiss-Prot
      Q9NR82
      Related
      ENSP00000486187.1, OTTHUMP00000279374, ENST00000628967.2, OTTHUMT00000484418
      Conserved Domains (3) summary
      pfam00520
      Location:160358
      Ion_trans; Ion transport protein
      pfam03520
      Location:416530
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:274348
      Ion_trans_2; Ion channel
    5. NM_019842.3NP_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)
      AF202977, AL365232, BC117359, BF513800, DA801374
      Consensus CDS
      CCDS4976.1
      UniProtKB/Swiss-Prot
      Q9NR82
      Related
      ENSP00000359425.1, OTTHUMP00000016729, ENST00000370398.5, OTTHUMT00000041198
      Conserved Domains (3) summary
      pfam00520
      Location:160358
      Ion_trans; Ion transport protein
      pfam03520
      Location:453640
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:274348
      Ion_trans_2; Ion channel

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

      Range
      72621843..73198851
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446493.1XP_024302261.1  potassium voltage-gated channel subfamily KQT member 5 isoform X3

      Conserved Domains (1) summary
      pfam00520
      Location:126358
      Ion_trans; Ion transport protein
    2. XM_017011058.1XP_016866547.1  potassium voltage-gated channel subfamily KQT member 5 isoform X1

    3. XM_024446492.1XP_024302260.1  potassium voltage-gated channel subfamily KQT member 5 isoform X2

      Related
      ENSP00000359419.1, ENST00000370392.5
      Conserved Domains (1) summary
      pfam00520
      Location:126358
      Ion_trans; Ion transport protein
    Support Center