rs3762316
This is a upstream gene variant variant in the IL12RB2 gene.
▶Research that mentions this SNP (1)
▶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.
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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