Aliases for ITPR2 Gene
External Ids for ITPR2 Gene
Previous GeneCards Identifiers for ITPR2 Gene
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]
GeneCards Summary for ITPR2 Gene
ITPR2 (Inositol 1,4,5-Trisphosphate Receptor, Type 2) is a Protein Coding gene. Diseases associated with ITPR2 include anhidrosis, isolated, with normal sweat glands and anhidrosis. Among its related pathways are Immune System and DAG and IP3 signaling. GO annotations related to this gene include binding and phosphatidylinositol binding. An important paralog of this gene is RYR1.
UniProtKB/Swiss-Prot for ITPR2 Gene
Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. This release is regulated by cAMP both dependently and independently of PKA (By similarity).
Inositol 1,4,5-trisphosphate (IP3) receptors are a form of ligand-gated ion channels that are activated by cytosolic Ca2+ and IP3. They are localized to intracellular membranes, such as the endoplasmic reticulum, and mediate the mobilization of intracellular Ca2+ stores.