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

Gene ID: 9992, updated on 11-Apr-2024

Summary

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; AllianceGenome:HGNC:6242
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]
Expression
Biased expression in stomach (RPKM 72.9) and duodenum (RPKM 4.0) See more
Orthologs
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Genomic context

See KCNE2 in Genome Data Viewer
Location:
21q22.11
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (34364006..34371381)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (32746055..32753431)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (35736305..35743680)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein S6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35531196-35531696 Neighboring gene RPS5 pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr21:35551498-35552375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18394 Neighboring gene long intergenic non-protein coding RNA 310 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35575958-35576956 Neighboring gene VISTA enhancer hs2174 Neighboring gene uncharacterized LOC105372791 Neighboring gene Sharpr-MPRA regulatory region 13847 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35755873-35756380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35756381-35756886 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35756972-35757494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35757495-35758015 Neighboring gene small integral membrane protein 11 Neighboring gene chromosome 21 open reading frame 140

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
Atrial fibrillation, familial, 4
MedGen: C1862394 OMIM: 611493 GeneReviews: Not available
Compare labs
Long QT syndrome
MedGen: C0023976 GeneReviews: Long QT Syndrome Overview
Compare labs
Long QT syndrome 6
MedGen: C3150953 OMIM: 613693 GeneReviews: Long QT Syndrome Overview
not available

EBI GWAS Catalog

Description
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
EBI GWAS Catalog
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
EBI GWAS Catalog
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC138292

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cardiac muscle cell action potential involved in contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to xenobiotic stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in membrane repolarization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in membrane repolarization during action potential IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in membrane repolarization during action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in membrane repolarization during ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of proteasomal protein catabolic process 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 potassium ion export across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in potassium ion import across plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
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 inward rectifier potassium channel activity IDA
Inferred from Direct Assay
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 tongue development IEA
Inferred from Electronic Annotation
more info
 
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 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_172201.2NP_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)
    AP000320
    Consensus CDS
    CCDS13635.1
    UniProtKB/Swiss-Prot
    A5H1P3, D3DSF8, Q52LJ5, Q9Y6J6
    UniProtKB/TrEMBL
    Q2N1I3
    Related
    ENSP00000290310.2, ENST00000290310.4
    Conserved Domains (1) summary
    pfam02060
    Location:50113
    ISK_Channel; Slow voltage-gated potassium channel

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    34364006..34371381
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    32746055..32753431
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_005136.2: Suppressed sequence

    Description
    NM_005136.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.