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

Gene ID: 23415, updated on 23-Nov-2021

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
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Genomic context

See KCNH4 in Genome Data Viewer
Location:
17q21.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (42156891..42181275, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40308909..40333160, 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 Sharpr-MPRA regulatory region 9875 Neighboring gene RAB5C antisense RNA 1 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 Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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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.

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 (4) summary
    PHA02682
    Location:838999
    PHA02682; ORF080 virion core protein; Provisional
    PLN03192
    Location:177620
    PLN03192; Voltage-dependent potassium channel; Provisional
    PRK13559
    Location:41179
    PRK13559; hypothetical protein; Provisional
    cl00047
    Location:578669
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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 (4) summary
    PHA02682
    Location:838999
    PHA02682; ORF080 virion core protein; Provisional
    PLN03192
    Location:177620
    PLN03192; Voltage-dependent potassium channel; Provisional
    PRK13559
    Location:41179
    PRK13559; hypothetical protein; Provisional
    cl00047
    Location:578669
    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 ...
  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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