rs3762315
This is a upstream gene variant variant in the IL12RB2 gene.
▶Research that mentions this SNP (2)
▶Functional analysis of differences in transcriptional activity conferred by genetic variants in the 5′ flanking region of the IL12RB2 geneFunctionalNahoko Kato-Kogoe et al.(2016)· Immunogenetics
This functional study investigated how SNPs rs3762315 (-1035A>G) and rs3762316 (-1023A>G) in the IL12RB2 gene promoter affect transcriptional activity through transcription factor binding. Using ELISA and reporter gene assays in T cells and NK cells, the researchers found that the -1023G allele creates an AP-1 binding site with enhanced binding affinity, while rs3762315 variants form differential binding sites for GATA-3 and MEF-2. These SNPs modulate IL12RB2 expression and may alter cell-mediated immune responses.
▶Nucleotide variation in IL‐10 and IL‐12 and their receptors and cervical and vulvar cancer risk: A hybrid case–parent triad and case–control studyAssociationN=4,300Shehnaz K. Hussain et al.(2013)· International Journal of Cancer
This hybrid case-parent triad and case-control study examined associations between 76 tagSNPs in IL10 and IL12 cytokine pathway genes (IL10, IL12A, IL12B, IL10RA, IL10RB, IL12RB1, IL12RB2) and cervical/vulvar cancer risk. Key findings include: IL10RA rs9610 (OR=1.76, 95% CI 1.15–2.68) and rs4252314 (OR=2.23, 95% CI 1.26–3.96) associated with increased cervical cancer risk; IL12RB2 rs4297265 (OR=0.46) and rs2229546 (OR=0.43) associated with reduced cervical SCC risk; IL12B rs3181224 associated with reduced vulvar SCC risk (OR=0.30, 95% CI 0.12–0.74); and IL12RB1 rs11575934 (OR=1.51, 95% CI 1.12–2.05) associated with increased cervical adenocarcinoma risk.
About IL12RB2
The protein encoded by this gene is a type I transmembrane protein identified as a subunit of the interleukin 12 receptor complex. The coexpression of this and IL12RB1 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The expression of this gene is up-regulated by interferon gamma in Th1 cells, and plays a role in Th1 cell differentiation. The up-regulation of this gene is found to be associated with a number of infectious diseases, such as Crohn's disease and leprosy, which is thought to contribute to the inflammatory response and host defense. Several transcript variants encoding different isoforms and non-protein coding transcripts have been found for this gene. [provided by RefSeq, Apr 2012]
View all IL12RB2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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