ID:CLIC2_HUMAN DESCRIPTION: RecName: Full=Chloride intracellular channel protein 2; AltName: Full=XAP121; FUNCTION: 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. SUBUNIT: Monomer. Interacts with TRAPPC2 and RYR2. SUBCELLULAR LOCATION: Cytoplasm. Membrane; Single-pass membrane protein (Probable). Note=Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain. TISSUE SPECIFICITY: Expressed in adult and fetal brain, heart, skeletal muscle, liver, lung, and spleen. Detected in adult stomach and testis. Expressed in fetal thymus and kidney. DOMAIN: Members of this family may change from a globular, soluble state to a state where the N-terminal domain is inserted into the membrane and functions as chloride channel. A conformation change of the N-terminal domain is thought to expose hydrophobic surfaces that trigger membrane insertion. DISEASE: Note=Defects in CLIC2 are a cause of a mental retardation with cardiopathy and seizures. Cardiac features include atrial fibrillation, cardiomegaly, and congestive heart failure. SIMILARITY: Belongs to the chloride channel CLIC family. SIMILARITY: Contains 1 GST C-terminal domain. SEQUENCE CAUTION: Sequence=CAA73228.1; Type=Frameshift; Positions=244;
Protein Domain and Structure Information
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