IL12RB2 Chromosome 1
Interleukin 12 receptor subunit beta 2
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
RS142841707
Conflicting classifications of pathogenicity
Health Risk
RS146568326
Conflicting classifications of pathogenicity
Health Risk
RS150877640
Conflicting classifications of pathogenicity
IL12RB2-related disorder, IL12RB2-related disorder
Health Risk
RS151216886
Conflicting classifications of pathogenicity
Health Risk
RS200115195
Conflicting classifications of pathogenicity
Health Risk
RS201465672
Conflicting classifications of pathogenicity
Health Risk
RS375777947
Conflicting classifications of pathogenicity
Health Risk
RS41313351
Conflicting classifications of pathogenicity
Health Risk
RS758668666
Conflicting classifications of pathogenicity
Health Risk
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 | — |