Gene: LOC105372791
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
Gene: KCNE2
Alternate names for this Gene: ATFB4|LQT5|LQT6|MIRP1
Gene 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 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.
Gene is located in Chromosome: 21
Location in Chromosome : 21q22.11
Description of this Gene: potassium voltage-gated channel subfamily E regulatory subunit 2
Type of Gene: protein-coding
rs141423405 in
LOC105372791;KCNE2 gene and
Long Qt Syndrome 6
PMID 12185453 2002 Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics.
PMID 10219239 1999 MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.
PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
PMID 16922724 2006 Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.