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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In individual 1319, differential expression of cardiac conduction related genes inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2) and ATPase [Na.sup.+]/[K.sup.+] transporting subunit beta 1 (ATP1B1) were observed following cisapride treatment, and potassium channel subfamily K member 1 (KCNK1) with isoproterenol treatment.
ATP1A1, ATPase [Na.sup.+]/[K.sup.+] transporting subunit alpha 1; ATP1B1, ATPase [Na.sup.+]/[K.sup.+] transporting subunit beta 1; CALM3, calmodulin 3; CAMK2B, Calcium/calmodulin-dependent protein kinase type II beta chain; Cmax, maximum concentration in blood plasma; CV, coefficient of variation; DMSO, dimethyl sulfoxide; hERG, human ethera-go-go-related gene; ITPR2, inositol 1,4,5-trisphosphate receptor, type 2; iPSC, induced pluripotent stem cell; IVIVE, in vitro-to-in vivo extrapolation; PLN, phospholamban; KCNK1, potassium channel subfamily K member 1; PRKACA, catalytic subunit a of protein kinase A; RED, rapid equilibrium dialysis; RFU, relative fluorescence units
Pathways Number of Involved Adjusted hits genes p value Pathways in 9 Jun, Runx1, MAX, Fas, 0.005 cancer FGF22, HSP90AA2, Cdk2, ETS1, Cdc42 MAPK signaling 7 Jun, MAX, Fas, FGF22, 0.024 pathway mapt, Il1r1, Cdc42 GnRH signaling 4 Jun, ITPR2, Gnas, Cdc42 0.049 pathway
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.