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

    Gene ID: 9992, updated on 9-Sep-2018

    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; 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]
    Expression
    Biased expression in stomach (RPKM 72.9) and duodenum (RPKM 4.0) See more
    Orthologs

    Genomic context

    See KCNE2 in Genome Data Viewer
    Location:
    21q22.11
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 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 long intergenic non-protein coding RNA 310 Neighboring gene VISTA enhancer hs2174 Neighboring gene uncharacterized LOC105372791 Neighboring gene small integral membrane protein 11A Neighboring gene uncharacterized LOC105372793 Neighboring gene family with sequence similarity 243 member A Neighboring gene small integral membrane protein 34A

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    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

    Pathways from BioSystems

    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC138292

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    aging IEA
    Inferred from Electronic Annotation
    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 IBA
    Inferred from Biological aspect of Ancestor
    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 IBA
    Inferred from Biological aspect of Ancestor
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 IBA
    Inferred from Biological aspect of Ancestor
    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 IBA
    Inferred from Biological aspect of Ancestor
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ventricular cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    lysosome HDA PubMed 
    plasma membrane HDA PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    colocalizes_with voltage-gated potassium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 

    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)

    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 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p12 Primary Assembly

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