Full name: inositol 1,4,5-trisphosphate receptor type 2

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ANHD; CFAP48; INSP3R2; IP3R2

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. [provided by RefSeq, Apr 2015]

Expression: Ubiquitous expression in liver (RPKM 15.0), kidney (RPKM 7.5) and 25 other tissues

Gene size: 497843bp

Exon count: 62