IL12RB2

Chr 1

interleukin 12 receptor subunit beta 2

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]

OMIMResearchGenerating clinical summary…
0
Active trials
26
Pubs (1 yr)
P/LP submissions
P/LP missense
0.71
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.71LOEUF
pLI 0.000
Z-score 3.12
OE 0.50 (0.350.71)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.22Z-score
OE missense 0.97 (0.901.05)
429 obs / 442.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.50 (0.350.71)
00.351.4
Missense OE?0.97 (0.901.05)
00.61.4
Synonymous OE?1.10
01.21.6
LoF obs/exp: 22 / 44.4Missense obs/exp: 429 / 442.1Syn Z: -0.96

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

IL12RB2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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