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KCNE4 potassium voltage-gated channel subfamily E regulatory subunit 4 [ Homo sapiens (human) ]

Gene ID: 23704, updated on 2-Mar-2021

Summary

Official Symbol
KCNE4provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily E regulatory subunit 4provided by HGNC
Primary source
HGNC:HGNC:6244
See related
MIM:607775
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MIRP3
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, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [provided by RefSeq, Jul 2008]
Expression
Broad expression in endometrium (RPKM 17.0), gall bladder (RPKM 15.1) and 21 other tissues See more
Orthologs
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Genomic context

See KCNE4 in Genome Data Viewer
Location:
2q36.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (223052190..223055637)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (223916908..223920355)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene acyl-CoA synthetase long chain family member 3 Neighboring gene ACSL3 antisense RNA 1 Neighboring gene zinc finger protein 79 pseudogene Neighboring gene uncharacterized LOC105373905 Neighboring gene uncharacterized LOC105373906

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
Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
GeneReviews: Not available
Germline genomic variants associated with childhood acute lymphoblastic leukemia.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC20353

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion channel binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
potassium channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
membrane repolarization during action potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane repolarization during ventricular cardiac muscle cell action potential IEA
Inferred from Electronic Annotation
more info
 
negative regulation of delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion export across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of heart rate by cardiac conduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of ventricular cardiac muscle cell membrane repolarization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ventricular cardiac muscle cell action potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
potassium voltage-gated channel subfamily E member 4
Names
MINK-related peptide 3
cardiac voltage-gated potassium channel accessory subunit 4
minimum potassium ion channel-related peptide 3
potassium channel subunit beta MiRP3
potassium channel, voltage gated subfamily E regulatory beta subunit 4
potassium voltage-gated channel, Isk-related family, member 4

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_080671.4NP_542402.4  potassium voltage-gated channel subfamily E member 4

    Status: VALIDATED

    Source sequence(s)
    AC017014
    Consensus CDS
    CCDS2456.2

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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    223052190..223055637
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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