IL12RB2 Chromosome 1

Interleukin 12 receptor subunit beta 2
9 variants 9 Health Risk

Upload your DNA to see your personal genotypes for variants in IL12RB2.

What This Gene Does
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]
Gene Info
Gene Group
"Fibronectin type III domain containing|Interleukin receptors"
Locus Type
gene with protein product
Location
1p31.3
Ensembl
ENSG00000081985
Associated Conditions (1)
IL12RB2-related disorder
Key Variants
All Variants (9)
RSID Category Clinical Significance Conditions
RS142841707 Health Risk Conflicting classifications of pathogenicity
RS146568326 Health Risk Conflicting classifications of pathogenicity
RS150877640 Health Risk Conflicting classifications of pathogenicity IL12RB2-related disorder, IL12RB2-related disorder
RS151216886 Health Risk Conflicting classifications of pathogenicity
RS200115195 Health Risk Conflicting classifications of pathogenicity
RS201465672 Health Risk Conflicting classifications of pathogenicity
RS375777947 Health Risk Conflicting classifications of pathogenicity
RS41313351 Health Risk Conflicting classifications of pathogenicity
RS758668666 Health Risk Conflicting classifications of pathogenicity
Sign Up to Analyze Your DNA Log In