| ncRNA Symbol: | ITPR2 | | Full Name: | inositol 1,4,5-trisphosphate receptor type 2 | | Category: | mRNA | | Synonyms: | ANHD|CFAP48|INSP3R2|IP3R2 | | Chromosome: | chr12 | | Strand: | - | | Coordinate: | | Start Site(bp): | 26336515 | End Site(bp): | 26833198 |
| | 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. [provided by RefSeq, Apr 2015] | | External Links: | |
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