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

Gene ID: 23415, updated on 21-Apr-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 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (42156892..42181278, 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 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

Process Evidence Code Pubs
potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
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.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    42156892..42181278 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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