Aliases for CLIC2 Gene
External Ids 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 x-linked intellectual disability - cardiomegaly - congestive heart failure and mental retardation, x-linked, syndromic 32. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include chloride channel activity and glutathione peroxidase activity. An important paralog of this gene is CLIC1.
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.