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

Gene ID: 27133, updated on 2-Mar-2021

Summary

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
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; 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

See KCNH5 in Genome Data Viewer
Location:
14q23.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (62699464..63045458, complement)
105.20201022 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 ATP synthase F1 subunit alpha pseudogene 4 Neighboring gene Sharpr-MPRA regulatory region 7830 Neighboring gene uncharacterized LOC105370531 Neighboring gene poly(ADP-ribose) polymerase 1 pseudogene 2 Neighboring gene uncharacterized LOC105370530

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?

Phenotypes

Associated conditions

Description Tests
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
GeneReviews: Not available
EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.
GeneReviews: Not available
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available
The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
ion channel binding IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
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 
regulation of G2/M transition of mitotic cell cycle IDA
Inferred from Direct Assay
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
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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_034062.1 RefSeqGene

    Range
    5001..343666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_139318.5NP_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
    Q8NCM2
    Related
    ENSP00000321427.7, ENST00000322893.12
    Conserved Domains (3) summary
    PLN03192
    Location:217616
    PLN03192; Voltage-dependent potassium channel; Provisional
    COG0664
    Location:544725
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    pfam13426
    Location:39132
    PAS_9; PAS domain
  2. NM_172375.3NP_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:217607
    PLN03192; Voltage-dependent potassium channel; Provisional
    pfam13426
    Location:39132
    PAS_9; PAS domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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

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.
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