ITPR2

Chr 12AR

inositol 1,4,5-trisphosphate receptor type 2

Also known as: ANHD, CFAP48, INSP3R2, IP3R2

NCBI Gene: 3709 ENSG00000123104 UniProt: Q14571 OMIM: 600144

This gene encodes an inositol 1,4,5-trisphosphate receptor that functions as a calcium channel, transporting calcium from the endoplasmic reticulum to the cytoplasm in response to inositol trisphosphate binding. Autosomal recessive mutations cause isolated anhidrosis with normal sweat glands, indicating that this calcium signaling pathway is essential for eccrine sweat production. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.615).

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…