rs689462
This is a regulatory region variant variant in the PTGS2 gene.
▶Research that mentions this SNP (1)
▶Association between a functional variant at PTGS2 gene 3′UTR and its mRNA expression in lymphoblastoid cell linesFunctionalXueting Wang et al.(2013)· Cell Biology International
This functional study examined how PTGS2 gene variants in the promoter region and 3'-UTR modulate COX-2 gene expression using luciferase reporter assays in MCF-7 and HEK293FT cells. The rs689466 G variant showed consistent enhancing effects (~2-fold increase in transcriptional activity, P<0.001), while rs20417 C reduced activity by 40% in MCF-7 cells. The 3'-UTR rs5275 variant had variable effects depending on cell line, but the transcriptional effect of rs689466 remained detectable.
About PTGS2
Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes the inducible isozyme. It is regulated by specific stimulatory events, suggesting that it is responsible for the prostanoid biosynthesis involved in inflammation and mitogenesis. [provided by RefSeq, Feb 2009]
View all PTGS2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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