ITPR2

ITPR2

A gene on chromosome 12p11 that encodes an intracellular receptor for a so-called second messenger (inositol 1,4,5-trisphosphate (IP3)) which, once stimulated by IP3, mediates calcium release from the endoplasmic reticulum. The three IP3 receptor subtypes—IP3R1, IP3R2 and IP3R3—are present in the wild as homo- and heterotetramers, are associated with calmodulin and FK506-binding protein, and are modulated through phosphorylation by PKA, PKC, PKG and CaMKII. ITPR2 and ITPR3 are thought to play a role in exocrine secretion during metabolism and growth.
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References in periodicals archive ?
Some genome-wide association studies (GWASs) identified single-nucleotide polymorphisms (SNPs) in the FGGY , ITPR2 , DPP6 , KIFAP3 , and UNC13A genes associated with SALS susceptibility.
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: A genome-wide association study.
No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort.