Aliases for CLCN2 Gene
External Ids 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 Channel, Voltage-Sensitive 2) is a Protein Coding gene. Diseases associated with CLCN2 include epilepsy, idiopathic generalized 11 and leukoencephalopathy with ataxia. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include voltage-gated chloride channel activity and adenyl nucleotide binding. An important paralog of this gene is CLCN7.
UniProtKB/Swiss-Prot 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.