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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]
O15247 [Direct mapping] Chloride intracellular channel protein 2
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Transporters Transporter channels and pores Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0004602 [glutathione peroxidase activity] GO:0005244 [voltage-gated ion channel activity] GO:0005254 [chloride channel activity] GO:0005515 [protein binding] GO:0005622 [intracellular] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006810 [transport] GO:0007165 [signal transduction] GO:0010880 [regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0010881 [regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion] GO:0034707 [chloride channel complex] GO:0051099 [positive regulation of binding] GO:0055114 [oxidation-reduction process] GO:0060315 [negative regulation of ryanodine-sensitive calcium-release channel activity] GO:1902476 [chloride transmembrane transport]