KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNE5provided by HGNC
Official Full Name: potassium voltage-gated channel subfamily E regulatory subunit 5provided by HGNC
Primary source: HGNC:HGNC:6241
See related: Ensembl:ENSG00000176076 MIM:300328; AllianceGenome:HGNC:6241
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: KCNE1L
Summary: This gene encodes a member of a family of single pass transmembrane domain proteins that function as ancillary subunits to voltage-gated potassium channels. Members of this family affect diverse processes in potassium channel regulation, including ion selectivity, voltage dependence, and anterograde recycling from the plasma membrane. Variants of this gene are associated with idiopathic ventricular fibrillation and Brugada syndrome. [provided by RefSeq, Nov 2016]
Orthologs: mouse all
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Genomic context

Location:: Xq23

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (109623700..109625172, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (108071490..108072962, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (108866929..108868401, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Carriers of DSG2p.F531C showed various phenotypes.
Title: Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation.
common single nucleotide polymorphism (SNP) from KCNE5, and ECG measurements and survival in postacute acute coronary syndrome patients
Title: KCNE5 polymorphism rs697829 is associated with QT interval and survival in acute coronary syndromes patients.
Data show that KCNQ3 and KCNE5 mRNA expressions were significantly upregulated in preeclampsia.
Title: Novel expression and regulation of voltage-dependent potassium channels in placentas from women with preeclampsia.
KCNE5 modulates I(to), and its novel variants appeared to cause IVF, especially BrS, in male patients through gain-of-function effects on I(to). Screening for KCNE5 variants is relevant for BrS or IVF.
Title: KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation.
A missense mutation in KCNE5 may be associated with nonfamilial or acquired forms of atrial fibrillation.
Title: Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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 potassium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
contributes_to voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	IMP Inferred from Mutant Phenotype 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 atrial cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
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 negative regulation of potassium ion export across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion export across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of atrial cardiac muscle cell membrane repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cation channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart rate by cardiac conduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of heart rate by cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of membrane repolarization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of ventricular cardiac muscle cell membrane repolarization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of ventricular cardiac muscle cell membrane repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular cardiac muscle cell action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in ventricular cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated potassium channel complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: potassium voltage-gated channel subfamily E regulatory beta subunit 5

Names: AMME syndrome candidate gene 2 protein; AMMECR2 protein; KCNE1-like; cardiac voltage-gated potassium channel accessory subunit 5; potassium channel subunit beta MiRP4; potassium voltage-gated channel subfamily E member 1-like protein; potassium voltage-gated channel, Isk-related family, member 1-like

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.