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

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: Ensembl:ENSG00000152049 MIM:607775; AllianceGenome:HGNC:6244
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: mouse all
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Genomic context

Location:: 2q36.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (223052190..223055637)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (223535022..223538472)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (223916908..223920355)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

Vitamin D Receptor Deficiency Upregulates Pulmonary Artery Kv7 Channel Activity.
Title: Vitamin D Receptor Deficiency Upregulates Pulmonary Artery Kv7 Channel Activity.
KCNE4 expression is correlated with the pathological characteristics of colorectal cancer patients and associated with the radioresistance of cancer cells.
Title: KCNE4 expression is correlated with the pathological characteristics of colorectal cancer patients and associated with the radioresistance of cancer cells.
Induction of potassium channel regulator KCNE4 in a submandibular lymph node metastasis model.
Title: Induction of potassium channel regulator KCNE4 in a submandibular lymph node metastasis model.
Calmodulin-dependent KCNE4 dimerization controls membrane targeting.
Title: Calmodulin-dependent KCNE4 dimerization controls membrane targeting.
KCNE4-dependent functional consequences of Kv1.3-related leukocyte physiology.
Title: KCNE4-dependent functional consequences of Kv1.3-related leukocyte physiology.
experimental data and the in silico structure suggest that the KCNE4 interaction hides a forward-trafficking motif within Kv1.3 in addition to adding a strong endoplasmic reticulum retention signature to the Kv1.3-KCNE4 complex.
Title: The calmodulin-binding tetraleucine motif of KCNE4 is responsible for association with Kv1.3.
Regulation of human cardiac potassium channels by full-length KCNE3 and KCNE4 has been reported.
Title: Regulation of human cardiac potassium channels by full-length KCNE3 and KCNE4.
The KCNE1 (rs1805127) appears to an independent risk factor for AF in the Uygur population. And the KCNE4 (rs12621643) was an independent risk factor for AF among both Uygurs and Hans.
Title: [Association of KCNE1 and KCNE4 gene polymorphisms with atrial fibrillation among Uygur and Han Chinese populations in Xinjiang].
Reported here are previously undiscovered protein-coding regions in exon 1 of hKCNE3 and hKCNE4 that extend their encoded extracellular domains by 44 and 51 residues, which yields full-length proteins of 147 and 221 residues, respectively.
Title: Novel exon 1 protein-coding regions N-terminally extend human KCNE3 and KCNE4.
the tertiary structure of the C-terminal domain of Kv1.3 is necessary and sufficient for Kv1.3- KCNE4 interaction.
Title: The C-terminal domain of Kv1.3 regulates functional interactions with the KCNE4 subunit.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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

EBI GWAS Catalog

Description
Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Germline genomic variants associated with childhood acute lymphoblastic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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
enables potassium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane transporter 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

Process	Evidence Code	Pubs
involved_in membrane repolarization during action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane repolarization during ventricular cardiac muscle cell action potential	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of delayed rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion export across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of heart rate by cardiac conduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of ventricular cardiac muscle cell membrane repolarization	IBA Inferred from Biological aspect of Ancestor more info
involved_in ventricular cardiac muscle cell action potential	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
part_of monoatomic ion channel complex	IEA Inferred from Electronic Annotation 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 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)

NM_080671.4 → NP_542402.4 potassium voltage-gated channel subfamily E member 4

Status: VALIDATED

Source sequence(s)

AC017014

Consensus CDS

CCDS2456.3

Related

ENSP00000281830.5, ENST00000281830.4

Conserved Domains (1) summary

pfam02060
Location:35 → 64

ISK_Channel; Slow voltage-gated potassium channel