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

Gene: FAM131A

Alternate names for this Gene: C3orf40|FLAT715|PRO1378

Gene Summary:

Gene is located in Chromosome: 3

Location in Chromosome : 3q27.1

Description of this Gene: family with sequence similarity 131 member A

Type of Gene: protein-coding

rs1553853557 in CLCN2;FAM131A gene and Hyperaldosteronism, Familial, Type II PMID 29403011 2018 CLCN2 chloride channel mutations in familial hyperaldosteronism type II.

PMID 29403012 2018 A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.