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KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 [ Homo sapiens (human) ]

Gene ID: 9992, updated on 20-Apr-2017
Official Symbol
KCNE2provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily E regulatory subunit 2provided by HGNC
Primary source
HGNC:HGNC:6242
See related
Ensembl:ENSG00000159197 MIM:603796; Vega:OTTHUMG00000086189
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
LQT5; LQT6; ATFB4; MIRP1
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 small integral membrane subunit that assembles with the KCNH2 gene product, a pore-forming protein, to alter its function. This gene is expressed in heart and muscle and the gene mutations are associated with cardiac arrhythmia. [provided by RefSeq, Jul 2008]
Orthologs
Location:
21q22.11
Exon count:
2
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 21 NC_000021.9 (34364024..34371141)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (35736323..35743440)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein S6 Neighboring gene ribosomal protein S5 pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 310 Neighboring gene uncharacterized LOC105372791 Neighboring gene small integral membrane protein 11A Neighboring gene uncharacterized LOC105372793 Neighboring gene chromosome 21 open reading frame 140 Neighboring gene putative uncharacterized protein LOC388820

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Atrial fibrillation, familial, 4
MedGen: C1862394 OMIM: 611493 GeneReviews: Not available
Compare labs
Long QT syndrome 6
MedGen: C3150953 OMIM: 613693 GeneReviews: Long QT Syndrome
Compare labs

NHGRI GWAS Catalog

Description
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
NHGRI GWA Catalog
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
NHGRI GWA Catalog
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
NHGRI GWA Catalog
  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • Gastric acid secretion, organism-specific biosystem (from KEGG)
    Gastric acid secretion, organism-specific biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
  • Gastric acid secretion, conserved biosystem (from KEGG)
    Gastric acid secretion, conserved biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Phase 2 - plateau phase, organism-specific biosystem (from REACTOME)
    Phase 2 - plateau phase, organism-specific biosystemPhase 2 of the cardiac action potential is the plateau phase which is sustained by a balance of Ca2+ influx through L-type Ca2+ channels (LTCCs) and K+ efflux through the slow delayed rectifier K+ ch...
  • Phase 3 - rapid repolarisation, organism-specific biosystem (from REACTOME)
    Phase 3 - rapid repolarisation, organism-specific biosystemIn phase 3 (the "rapid repolarisation" phase), the L-type Ca2+ channels close, while the slow delayed rectifier (IKs) K+ channels remain open as more K+ leak channels open. This ensures a net outward...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC138292

Gene Ontology Provided by GOA

Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
cardiac conduction TAS
Traceable Author Statement
more info
 
cardiac muscle cell action potential involved in contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to drug IDA
Inferred from Direct Assay
more info
PubMed 
membrane repolarization IDA
Inferred from Direct Assay
more info
PubMed 
membrane repolarization during action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane repolarization during ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of proteasomal protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of voltage-gated calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
potassium ion export IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion import IMP
Inferred from Mutant Phenotype
more info
PubMed 
potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cyclic nucleotide-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
regulation of delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of inward rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of membrane repolarization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
regulation of ventricular cardiac muscle cell membrane repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
tongue development IEA
Inferred from Electronic Annotation
more info
 
ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
potassium voltage-gated channel subfamily E member 2
Names
cardiac voltage-gated potassium channel accessory subunit 2
minK-related peptide-1
minimum potassium ion channel-related peptide 1
potassium channel subunit beta MiRP1
potassium channel subunit, MiRP1
potassium channel, voltage gated subfamily E regulatory beta subunit 2
potassium voltage-gated channel, Isk-related family, member 2
voltage-gated K+ channel subunit MIRP1

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_008804.1 RefSeqGene

    Range
    5001..12118
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_291

mRNA and Protein(s)

  1. NM_172201.1NP_751951.1  potassium voltage-gated channel subfamily E member 2

    See identical proteins and their annotated locations for NP_751951.1

    Status: REVIEWED

    Source sequence(s)
    AF302095
    Consensus CDS
    CCDS13635.1
    UniProtKB/Swiss-Prot
    Q9Y6J6
    Related
    ENSP00000290310.2, OTTHUMP00000108568, ENST00000290310.3, OTTHUMT00000194068
    Conserved Domains (1) summary
    pfam02060
    Location:50113
    ISK_Channel; Slow voltage-gated potassium channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p7 Primary Assembly

    Range
    34364024..34371141
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018932.2 Alternate CHM1_1.1

    Range
    35298575..35305689
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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