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KCNH5 potassium voltage-gated channel subfamily H member 5 [ Homo sapiens (human) ]

Gene ID: 27133, updated on 11-Apr-2024

Summary

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Official Symbol
KCNH5provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily H member 5provided by HGNC
Primary source
HGNC:HGNC:6254
See related
Ensembl:ENSG00000140015 MIM:605716; AllianceGenome:HGNC:6254
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
EAG2; hEAG2; DEE112; H-EAG2; Kv10.2
Summary
This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Expression
Biased expression in brain (RPKM 1.4), adrenal (RPKM 0.6) and 2 other tissues See more
Orthologs
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Genomic context

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Location:
14q23.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (62699464..63045458, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (56906444..57253090, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (63166182..63512176, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370529 Neighboring gene uncharacterized LOC105370528 Neighboring gene NANOG hESC enhancer GRCh37_chr14:63033845-63034401 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:63102949-63103450 Neighboring gene ATP synthase F1 subunit alpha pseudogene 4 Neighboring gene Sharpr-MPRA regulatory region 7830 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34896 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:63248008-63248579 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34948 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:63511437-63511940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:63511941-63512444 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:63527728-63528286 Neighboring gene LINE-1 retrotransposable element ORF1 protein-like Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:63632890-63633551 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:63640011-63640186 Neighboring gene uncharacterized LOC105370530 Neighboring gene poly(ADP-ribose) polymerase 1 pseudogene 2

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mechanism underlying delayed rectifying in human voltage-mediated activation Eag2 channel.
    Title: Mechanism underlying delayed rectifying in human voltage-mediated activation Eag2 channel.
  2. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
    Title: Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
  3. A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism.
    Title: A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism.
  4. Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population.
    Title: Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population.
  5. Chloride intracellular channel 1 cooperates with potassium channel EAG2 to promote medulloblastoma growth.
    Title: Chloride intracellular channel 1 cooperates with potassium channel EAG2 to promote medulloblastoma growth.
  6. EAG2 potassium channel has an evolutionarily conserved function for promoting brain tumor growth.
    Title: EAG2 potassium channel with evolutionarily conserved function as a brain tumor target.
  7. The observed Ca(2+)-induced proteolytic cleavage of EAG2 channel may act as an adaptive response under physiological and/or pathological conditions.
    Title: A sustained increase in the intracellular Ca²⁺ concentration induces proteolytic cleavage of EAG2 channel.
  8. Study propose that hypomethylation of the placental-specific KCNH5 promoter is frequently associated with KCNH5 expression in melanoma cells.
    Title: Retrotransposon hypomethylation in melanoma and expression of a placenta-specific gene.
  9. Our results demonstrate the critical role of the Arg327 residue in stabilizing the channel closed state and explicate for the first time the structural and functional change of a Kv10.2 channel mutation associated with neurological disease.
    Title: Multistate structural modeling and voltage-clamp analysis of epilepsy/autism mutation Kv10.2-R327H demonstrate the role of this residue in stabilizing the channel closed state.
  10. This study performed whole exome sequencing demonistrated that the true de novo variants represent mutations in genes (KCNH5, CLCN4, and ARHGEF15) not previously associated with epilepsies in humans.
    Title: Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
Submit: New GeneRIF Correction See all GeneRIFs (17)

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
Developmental and epileptic encephalopathy 112
MedGen: CN375607 OMIM: 620537 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
EBI GWAS Catalog
EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.
EBI GWAS Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog
The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.
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

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 calmodulin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
  
enables transmembrane transporter binding IEA
Inferred from Electronic Annotation
more info
  
enables voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within regulation of G2/M transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  

General protein information

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Preferred Names
potassium voltage-gated channel subfamily H member 5
Names
ether-a-go-go 2
ether-a-go-go-related potassium channel 2
potassium channel, voltage gated eag related subfamily H, member 5
potassium voltage-gated channel, subfamily H (eag-related), member 5
voltage-gated potassium channel subunit Kv10.2

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_034062.2 RefSeqGene

    Range
    5000..350994
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_139318.5 → NP_647479.2  potassium voltage-gated channel subfamily H member 5 isoform 1

    See identical proteins and their annotated locations for NP_647479.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF472412, AL132666, AL355101, BC073979
    Consensus CDS
    CCDS9756.1
    UniProtKB/Swiss-Prot
    C9JP98, Q8NCM2
    Related
    ENSP00000321427.7, ENST00000322893.12
    Conserved Domains (3) summary
    PLN03192
    Location:217 → 616
    PLN03192; Voltage-dependent potassium channel; Provisional
    COG0664
    Location:544 → 725
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    pfam13426
    Location:39 → 132
    PAS_9; PAS domain

  2. NM_172375.3 → NP_758963.1  potassium voltage-gated channel subfamily H member 5 isoform 3

    See identical proteins and their annotated locations for NP_758963.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), also known as HEAG2b, lacks an exon in the coding region, which results in a frameshift and an early stop codon, as compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, as compared to isoform 1.
    Source sequence(s)
    AF493798, AL132666, AL355101
    Consensus CDS
    CCDS45122.1
    UniProtKB/Swiss-Prot
    Q8NCM2
    Related
    ENSP00000395439.2, ENST00000420622.6
    Conserved Domains (2) summary
    PLN03192
    Location:217 → 607
    PLN03192; Voltage-dependent potassium channel; Provisional
    pfam13426
    Location:39 → 132
    PAS_9; PAS domain

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    62699464..63045458 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431275.1 → XP_047287231.1  potassium voltage-gated channel subfamily H member 5 isoform X1

    Related
    ENSP00000378419.1, ENST00000394968.2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    56906444..57253090 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375872.1 → XP_054231847.1  potassium voltage-gated channel subfamily H member 5 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_172376.1: Suppressed sequence

    Description
    NM_172376.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NCM2.3 GenPept UniProtKB/Swiss-Prot:Q8NCM2

Gene LinkOut

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