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    KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 [ Homo sapiens (human) ]

    Gene ID: 10008, updated on 11-Apr-2024

    Summary

    Official Symbol
    KCNE3provided by HGNC
    Official Full Name
    potassium voltage-gated channel subfamily E regulatory subunit 3provided by HGNC
    Primary source
    HGNC:HGNC:6243
    See related
    Ensembl:ENSG00000175538 MIM:604433; AllianceGenome:HGNC:6243
    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
    HYPP; HOKPP; MiRP2; BRGDA6
    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 kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in duodenum (RPKM 10.8), stomach (RPKM 10.5) and 18 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KCNE3 in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (74454841..74467549, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (74384260..74396980, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (74165886..74178594, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268078 Neighboring gene phosphoglucomutase 2 like 1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 40 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:74107127-74107628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:74107629-74108128 Neighboring gene H3K27ac hESC enhancers GRCh37_chr11:74109220-74109841 and GRCh37_chr11:74109842-74110462 Neighboring gene microRNA 548al Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:74123584-74124783 Neighboring gene probable ribosome biogenesis protein RLP24 Neighboring gene CYCS pseudogene 27

    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
    Brugada syndrome 6
    MedGen: C2751089 OMIM: 613119 GeneReviews: Brugada Syndrome
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC102685, MGC129924, DKFZp781H21101

    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
     
    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 intracellular chloride ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    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 delayed rectifier potassium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of membrane repolarization during ventricular cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of potassium ion export across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of voltage-gated potassium channel activity 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 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 ventricular cardiac muscle cell membrane repolarization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular cardiac muscle cell action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in basolateral part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perikaryon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    colocalizes_with plasma membrane IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in vesicle 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

    Preferred Names
    potassium voltage-gated channel subfamily E member 3
    Names
    cardiac voltage-gated potassium channel accessory subunit
    minK-related peptide 2
    minimum potassium ion channel-related peptide 2
    potassium channel subunit beta MiRP2
    potassium channel, voltage gated subfamily E regulatory beta subunit 3
    potassium voltage-gated channel, Isk-related family, member 3
    voltage-gated K+ channel subunit MIRP2

    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_011833.1 RefSeqGene

      Range
      5001..17715
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_439

    mRNA and Protein(s)

    1. NM_005472.5NP_005463.1  potassium voltage-gated channel subfamily E member 3

      See identical proteins and their annotated locations for NP_005463.1

      Status: REVIEWED

      Source sequence(s)
      AP001372, DQ192291
      Consensus CDS
      CCDS8232.1
      UniProtKB/Swiss-Prot
      Q9Y6H6
      UniProtKB/TrEMBL
      Q2N1I1, Q6IAE6
      Related
      ENSP00000310557.4, ENST00000310128.9
      Conserved Domains (1) summary
      pfam02060
      Location:5996
      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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      74454841..74467549 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544713.3XP_011543015.1  potassium voltage-gated channel subfamily E member 3 isoform X1

      Conserved Domains (1) summary
      pfam02060
      Location:92140
      ISK_Channel; Slow voltage-gated potassium channel
    2. XM_017017047.2XP_016872536.1  potassium voltage-gated channel subfamily E member 3 isoform X2

      UniProtKB/Swiss-Prot
      Q9Y6H6
      UniProtKB/TrEMBL
      Q2N1I1, Q6IAE6
      Conserved Domains (1) summary
      pfam02060
      Location:5996
      ISK_Channel; Slow voltage-gated potassium channel
    3. XM_017017051.3XP_016872540.1  potassium voltage-gated channel subfamily E member 3 isoform X2

      UniProtKB/Swiss-Prot
      Q9Y6H6
      UniProtKB/TrEMBL
      Q2N1I1, Q6IAE6
      Conserved Domains (1) summary
      pfam02060
      Location:5996
      ISK_Channel; Slow voltage-gated potassium channel
    4. XM_017017048.2XP_016872537.1  potassium voltage-gated channel subfamily E member 3 isoform X2

      UniProtKB/Swiss-Prot
      Q9Y6H6
      UniProtKB/TrEMBL
      Q2N1I1, Q6IAE6
      Conserved Domains (1) summary
      pfam02060
      Location:5996
      ISK_Channel; Slow voltage-gated potassium channel
    5. XM_047426177.1XP_047282133.1  potassium voltage-gated channel subfamily E member 3 isoform X2

      UniProtKB/Swiss-Prot
      Q9Y6H6
      UniProtKB/TrEMBL
      Q6IAE6
    6. XM_017017049.2XP_016872538.1  potassium voltage-gated channel subfamily E member 3 isoform X2

      UniProtKB/Swiss-Prot
      Q9Y6H6
      UniProtKB/TrEMBL
      Q2N1I1, Q6IAE6
      Conserved Domains (1) summary
      pfam02060
      Location:5996
      ISK_Channel; Slow voltage-gated potassium channel
    7. XM_047426176.1XP_047282132.1  potassium voltage-gated channel subfamily E member 3 isoform X2

      UniProtKB/Swiss-Prot
      Q9Y6H6
      UniProtKB/TrEMBL
      Q6IAE6
      Related
      ENSP00000433633.1, ENST00000525550.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      74384260..74396980 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367358.1XP_054223333.1  potassium voltage-gated channel subfamily E member 3 isoform X1

    2. XM_054367360.1XP_054223335.1  potassium voltage-gated channel subfamily E member 3 isoform X2

      UniProtKB/Swiss-Prot
      Q9Y6H6
      UniProtKB/TrEMBL
      Q6IAE6
    3. XM_054367363.1XP_054223338.1  potassium voltage-gated channel subfamily E member 3 isoform X2

      UniProtKB/Swiss-Prot
      Q9Y6H6
      UniProtKB/TrEMBL
      Q6IAE6
    4. XM_054367361.1XP_054223336.1  potassium voltage-gated channel subfamily E member 3 isoform X2

      UniProtKB/Swiss-Prot
      Q9Y6H6
      UniProtKB/TrEMBL
      Q6IAE6
    5. XM_054367362.1XP_054223337.1  potassium voltage-gated channel subfamily E member 3 isoform X2

      UniProtKB/Swiss-Prot
      Q9Y6H6
      UniProtKB/TrEMBL
      Q6IAE6
    6. XM_054367359.1XP_054223334.1  potassium voltage-gated channel subfamily E member 3 isoform X2

      UniProtKB/Swiss-Prot
      Q9Y6H6
      UniProtKB/TrEMBL
      Q6IAE6