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    KCNH4 potassium voltage-gated channel subfamily H member 4 [ Homo sapiens (human) ]

    Gene ID: 23415, updated on 17-Jun-2019

    Summary

    Official Symbol
    KCNH4provided by HGNC
    Official Full Name
    potassium voltage-gated channel subfamily H member 4provided by HGNC
    Primary source
    HGNC:HGNC:6253
    See related
    Ensembl:ENSG00000089558 MIM:604528
    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
    BEC2; ELK1; Kv12.3
    Summary
    Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. The gene is brain-specific, and located in the neocortex and the striatum. It may be involved in cellular excitability of restricted neurons in the central nervous system. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See KCNH4 in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (42156891..42181275, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40308910..40333296, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene heat shock protein family B (small) member 9 Neighboring gene RAB5C, member RAS oncogene family Neighboring gene uncharacterized LOC105371781 Neighboring gene Sharpr-MPRA regulatory region 9875 Neighboring gene hypocretin neuropeptide precursor Neighboring gene GH3 domain containing

    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 FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • 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...

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    voltage-gated potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    potassium ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    voltage-gated potassium channel complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    potassium voltage-gated channel subfamily H member 4
    Names
    ELK channel 1
    brain-specific eag-like channel 2
    ether-a-go-go K(+) channel family member
    ether-a-go-go-like potassium channel 1
    potassium channel, voltage gated eag related subfamily H, member 4
    potassium voltage-gated channel, subfamily H (eag-related), member 4
    voltage-gated potassium channel subunit Kv12.3

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_012285.3NP_036417.1  potassium voltage-gated channel subfamily H member 4

      See identical proteins and their annotated locations for NP_036417.1

      Status: REVIEWED

      Source sequence(s)
      AB022698, AC099811, AW084816
      Consensus CDS
      CCDS11420.1
      UniProtKB/Swiss-Prot
      Q9UQ05
      Related
      ENSP00000264661.2, ENST00000264661.4
      Conserved Domains (7) summary
      PHA02682
      Location:838999
      PHA02682; ORF080 virion core protein; Provisional
      cd00038
      Location:556676
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      cd00130
      Location:29133
      PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
      pfam00520
      Location:244486
      Ion_trans; Ion transport protein
      pfam07885
      Location:426480
      Ion_trans_2; Ion channel
      pfam13426
      Location:29135
      PAS_9; PAS domain
      cl21462
      Location:872901
      bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      42156891..42181275 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024401.2XP_016879890.1  potassium voltage-gated channel subfamily H member 4 isoform X2

    2. XM_017024400.2XP_016879889.1  potassium voltage-gated channel subfamily H member 4 isoform X1

      UniProtKB/Swiss-Prot
      Q9UQ05
      Conserved Domains (7) summary
      PHA02682
      Location:838999
      PHA02682; ORF080 virion core protein; Provisional
      cd00038
      Location:556676
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      cd00130
      Location:29133
      PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
      pfam00520
      Location:244486
      Ion_trans; Ion transport protein
      pfam07885
      Location:426480
      Ion_trans_2; Ion channel
      pfam13426
      Location:29135
      PAS_9; PAS domain
      cl21462
      Location:872901
      bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
    3. XM_017024402.1XP_016879891.1  potassium voltage-gated channel subfamily H member 4 isoform X3

    4. XM_017024403.2XP_016879892.1  potassium voltage-gated channel subfamily H member 4 isoform X4

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