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

    Gene ID: 23704, updated on 27-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KCNE4 in Genome Data Viewer
    Location:
    2q36.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (223052190..223055637)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (223535022..223538472)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (223916908..223920355)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene acyl-CoA synthetase long chain family member 3 Neighboring gene ACSL3 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12375 Neighboring gene zinc finger protein 79 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17170 Neighboring gene Sharpr-MPRA regulatory region 15139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17171 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:223917216-223917763 Neighboring gene uncharacterized LOC124907986 Neighboring gene uncharacterized LOC105373905 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:224054668-224055644 Neighboring gene NANOG hESC enhancer GRCh37_chr2:224059803-224060348 Neighboring gene uncharacterized LOC105373906

    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

    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
    Germline genomic variants associated with childhood acute lymphoblastic leukemia.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC20353

    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 inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    Component Evidence Code Pubs
    located_in apical plasma membrane 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

    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)

    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.

    mRNA and Protein(s)

    1. NM_080671.4NP_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:3564
      ISK_Channel; Slow voltage-gated potassium channel

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      223052190..223055637
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      223535022..223538472
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)