Gene: CLCN2

Alternate names for this Gene: CIC-2|CLC2|ECA2|ECA3|EGI11|EGI3|EGMA|EJM6|EJM8|HALD2|LKPAT|clC-2

Gene Summary: This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3q27.1

Description of this Gene: chloride voltage-gated channel 2

Type of Gene: protein-coding

rs137852681 in CLCN2 gene and EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 PMID 19710712 2009 CLCN2 variants in idiopathic generalized epilepsy.

PMID 19191339 2009 Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

rs1085307938 in CLCN2 gene and Hyperaldosteronism, Familial, Type II PMID 29403012 2018 A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.

PMID 29403011 2018 CLCN2 chloride channel mutations in familial hyperaldosteronism type II.

rs73189617 in CLCN2 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs201330912 in CLCN2 gene and LEUKOENCEPHALOPATHY WITH ATAXIA PMID 21703448 2011 Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.

PMID 23707145 2013 Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.

PMID 12612585 2003 Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.

PMID 25128180 2014 Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation.

PMID 25745790 2015 Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation.