Gene: ITPR2
Alternate names for this Gene: ANHD|CFAP48|INSP3R2|IP3R2
Gene Summary: The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production.
Gene is located in Chromosome: 12
Location in Chromosome : 12p11.23
Description of this Gene: inositol 1,4,5-trisphosphate receptor type 2
Type of Gene: protein-coding