Gene: ITPR2

Alternate names for this Gene: ANHD|CFAP48|INSP3R2|IP3R2

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.

Gene is located in Chromosome: 12

Location in Chromosome : 12p11.23

Description of this Gene: inositol 1,4,5-trisphosphate receptor type 2

Type of Gene: protein-coding

rs12823128 in ITPR2 gene and Birth Weight PMID 27680694 2016 Genome-wide associations for birth weight and correlations with adult disease.

PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs61914406 in ITPR2 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10842750 in ITPR2 gene and Kashin-Beck Disease PMID 25303641 2015 In patients with KBD, the genotype score for rs10842750 was also correlated with KBD clinical severity grades (P = 0.013).

rs10842750 in ITPR2 gene and Malignant neoplasm of esophagus PMID 21642993 2011 Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.

rs1021797 in ITPR2 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1049380 in ITPR2 gene and Renal Cell Carcinoma PMID 22010048 2012 We identified two common variants in linkage disequilibrium, rs718314 and rs1049380 (r(2) = 0.64, D ' = 0.84), in the inositol 1,4,5-triphosphate receptor, type 2 (ITPR2) gene on 12p11.23 as novel susceptibility loci for RCC (P = 8.89 × 10(-10) and P = 6.07 × 10(-9), respectively, in meta-analysis) with an allelic odds ratio of 1.19 [95% confidence interval (CI): 1.13-1.26] for rs718314 and 1.18 (95% CI: 1.12-1.25) for rs1049380.

PMID 31231134 2019 Sex specific associations in genome wide association analysis of renal cell carcinoma.

PMID 28598434 2017 Genome-wide association study identifies multiple risk loci for renal cell carcinoma.

rs11048611 in ITPR2 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.