The KCNE2 gene homepage

General information
Gene symbol KCNE2
Gene name potassium voltage-gated channel, Isk-related family, member 2
Chromosome 21
Chromosomal band q22.1
Imprinted -
Genomic reference NG_008804.1
Transcript reference NM_172201.1
Associated with diseases WD
Citation reference(s) Pan M et al, 2011
Zhang T et al, 2010
Refseq URL Coding DNA reference sequence
Curators (0) -
Total number of public variants reported 54
Unique public DNA variants reported 38
Individuals with public variants 0
Hidden variants -
Notes 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]
Also known as: LQT5; LQT6; ATFB4; MIRP1
Date created April 20, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.genomed.org/lovd3/genes/KCNE2
External URL KCNE2
HGNC 6242
Entrez Gene 9992
PubMed articles KCNE2
OMIM - Gene 603796
OMIM - Diseases WD (wilson disease)
HGMD KCNE2
GeneCards KCNE2
GeneTests KCNE2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000064 21 potassium voltage-gated channel, Isk-related family, member 2 NM_172201.1 - 54


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