rs61914392

This is a intron variant variant in the ITPR2 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

clonal hematopoiesis

Stacey SN et al. “Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis.” Nature Genetics 55(12):2149-2159 (2023)
Allele G
OR 1.23
p 1.0e-17
N 59,219
Large GWAS
European

About ITPR2

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]

View all ITPR2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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