Aliases for CLIC2 Gene
External Ids for CLIC2 Gene
Previous GeneCards Identifiers for CLIC2 Gene
This gene encodes a chloride intracellular channel protein. Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. This protein may play a role in inhibiting the function of ryanodine receptor 2. A mutation in this gene is the cause of X-linked mental retardation-32. [provided by RefSeq, Aug 2013]
GeneCards Summary for CLIC2 Gene
CLIC2 (Chloride Intracellular Channel 2) is a Protein Coding gene. Diseases associated with CLIC2 include Mental Retardation, X-Linked, Syndromic 32 and Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. GO annotations related to this gene include chloride channel activity and glutathione transferase activity. An important paralog of this gene is CLIC6.
UniProtKB/Swiss-Prot for CLIC2 Gene
Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Modulates the activity of RYR2 and inhibits calcium influx.