rs11048585
This is a intron variant variant in the ITPR2 gene.
▶Research that mentions this SNP (1)
▶Genetic variants in the ITPR2 gene are associated with Kashin‐Beck Disease in TibetanAssociationN=636Xue He et al.(2019)· Molecular Genetics & Genomic Medicine
This case-control study examined eight SNPs in the ITPR2 gene in a Tibetan population (316 KBD patients and 320 controls). The variant rs11048526 showed significant association with Kashin-Beck Disease (KBD), with the A allele conferring increased risk (OR = 1.49, 95% CI = 1.07-2.08, p = 0.019) in the allele model, and even stronger effects in co-dominant, dominant, and log-additive models after age and gender adjustment.
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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