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

Gene ID: 10008, updated on 3-May-2015
Official Symbol
KCNE3provided by HGNC
Official Full Name
potassium channel, voltage gated subfamily E regulatory beta subunit 3provided by HGNC
Primary source
HGNC:HGNC:6243
See related
Ensembl:ENSG00000175538; HPRD:07256; MIM:604433; Vega:OTTHUMG00000165641
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
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]
Orthologs
See KCNE3 in MapViewer
Location:
11q13.4
Exon count:
3
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (74454841..74467557, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (74165886..74178600, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369385 Neighboring gene phosphoglucomutase 2-like 1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 40 Neighboring gene microRNA 548al Neighboring gene uncharacterized LOC100287896 Neighboring gene cytochrome c, somatic pseudogene 27 Neighboring gene lipoyl(octanoyl) transferase 2 (putative)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

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

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.
NHGRI GWA Catalog
  • Protein digestion and absorption, organism-specific biosystem (from KEGG)
    Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
  • Protein digestion and absorption, conserved biosystem (from KEGG)
    Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC102685, MGC129924, DKFZp781H21101

Gene Ontology Provided by GOA

Function Evidence Code Pubs
potassium channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
 
potassium channel regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated potassium channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
negative regulation of delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of membrane repolarization IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
dendrite IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body membrane IDA
Inferred from Direct Assay
more info
PubMed 
perikaryon IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
 
colocalizes_with voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
potassium voltage-gated channel subfamily E member 3
Names
potassium voltage-gated channel subfamily E member 3
cardiac voltage-gated potassium channel accessory subunit
minK-related peptide 2
minimum potassium ion channel-related peptide 2
potassium channel subunit beta MiRP2
potassium voltage-gated channel, Isk-related family, member 3
voltage-gated K+ channel subunit MIRP2

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_005472.4NP_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, BC032235, DR006135
    Consensus CDS
    CCDS8232.1
    UniProtKB/TrEMBL
    Q6IAE6
    UniProtKB/Swiss-Prot
    Q9Y6H6
    Related
    ENSP00000310557, OTTHUMP00000230582, ENST00000310128, OTTHUMT00000385531
    Conserved Domains (1) summary
    pfam02060
    Location:3797
    ISK_Channel; Slow voltage-gated potassium channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    74454841..74467557
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544713.1XP_011543015.1  

    Conserved Domains (1) summary
    pfam02060
    Location:81141
    ISK_Channel; Slow voltage-gated potassium channel

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    74049426..74062143
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)