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 —
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