Gene: ITPR3

Alternate names for this Gene: IP3R|IP3R3

Gene Summary: This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors play a key role in exocrine secretion underlying energy metabolism and growth.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.31

Description of this Gene: inositol 1,4,5-trisphosphate receptor type 3

Type of Gene: protein-coding

rs10947428 in ITPR3 gene and Allergic Reaction PMID 29083406 2017 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

rs2296740 in ITPR3 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs942637 in ITPR3 gene and Body mass index PMID 26920376 2016 Genetic overlap between multiple sclerosis and several cardiovascular disease risk factors.

rs2296328 in ITPR3 gene and Coronary heart disease PMID 21971053 2012 Genome-wide association study of coronary artery disease in the Japanese.

rs10947428 in ITPR3 gene and Eczema PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4711332 in ITPR3 gene and Graves Disease PMID 21900946 2011 Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.

PMID 21900946 2011 Multivariate stepwise logistic regression analysis selected rs3893464, rs4313034, rs3132613, rs4248154, rs2273017, rs9394159 and rs4713693, as markers for independent risk loci for GD.

rs4711336 in ITPR3 gene and Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs4711332 in ITPR3 gene and Hepatitis B PMID 21750111 2011 A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.

rs3748079 in ITPR3 gene and Lupus Erythematosus, Systemic PMID 18219441 2008 Here we report that an SNP (rs3748079) located in a promoter region of the inositol 1,4,5-triphosphate receptor type 3 (ITPR3) gene on chromosome 6p21 was significantly associated with SLE in two independent Japanese case-control samples [P=0.0000000178 with odds ratio of 1.88, 95% confidence interval (CI) of 1.51-2.35].

rs4713646 in ITPR3 gene and Malignant Testicular Germ Cell Tumor PMID 20543847 2010 Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.

rs942637 in ITPR3 gene and Multiple Sclerosis PMID 26920376 2016 Genetic overlap between multiple sclerosis and several cardiovascular disease risk factors.

rs999943 in ITPR3 gene and Obesity PMID 19553259 2009 Common body mass index-associated variants confer risk of extreme obesity.

rs10807127 in ITPR3 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2296742 in ITPR3 gene and Rheumatoid Arthritis PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

rs2229637 in ITPR3 gene and Venous Thromboembolism PMID 28203683 2017 Identification of unique venous thromboembolism-susceptibility variants in African-Americans.