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KCNE3 potassium voltage-gated channel, Isk-related family, member 3 [ Homo sapiens (human) ]

Gene ID: 10008, updated on 29-Jul-2014
Official Symbol
KCNE3provided by HGNC
Official Full Name
potassium voltage-gated channel, Isk-related family, member 3provided by HGNC
Primary source
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]
See KCNE3 in Epigenomics, MapViewer
Location:
11q13.4
Exon count:
3
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (74454841..74467555, 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 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 IEA
Inferred from Electronic Annotation
more info
 
voltage-gated potassium channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of potassium ion transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
potassium voltage-gated channel subfamily E member 3
Names
potassium voltage-gated channel subfamily E member 3
minK-related peptide 2
potassium channel subunit beta MiRP2
voltage-gated K+ channel subunit MIRP2
minimum potassium ion channel-related peptide 2
cardiac voltage-gated potassium channel accessory subunit

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 

    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 proteins identical to 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
    Blast Score: 98
    ISK_Channel; Slow voltage-gated potassium channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

    Range
    74454841..74467555
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    70461201..70473937
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

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