Aliases for CLCN2 Gene
External Ids for CLCN2 Gene
Previous GeneCards Identifiers for CLCN2 Gene
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. [provided by RefSeq, Mar 2012]
GeneCards Summary for CLCN2 Gene
CLCN2 (Chloride Voltage-Gated Channel 2) is a Protein Coding gene. Diseases associated with CLCN2 include Leukoencephalopathy With Ataxia and Hyperaldosteronism, Familial, Type Ii. Among its related pathways are Ion channel transport and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated chloride channel activity. An important paralog of this gene is CLCN1.
UniProtKB/Swiss-Prot Summary for CLCN2 Gene
Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. Involved in the regulation of aldosterone production. The opening of CLCN2 channels at hyperpolarized membrane potentials in the glomerulosa causes cell membrane depolarization, activation of voltage-gated Ca2+ channels and increased expression of aldosterone synthase, the rate-limiting enzyme for aldosterone biosynthesis (PubMed:29403011, PubMed:29403012).