HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
IL12RB2
interleukin 12 receptor subunit beta 2
Chromosome 1 · 1p31.3
NCBI Gene: 3595Ensembl: ENSG00000081985.14HGNC: HGNC:5972UniProt: A0A8Q3SIX0
105PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of type II interferon productioninterleukin-12-mediated signaling pathwaycoreceptor activitycytokine bindingprimary biliary cirrhosisrheumatoid arthritisCrohn's diseasesystemic lupus erythematosus
✦AI Summary

IL12RB2 encodes the interleukin-12 receptor subunit beta 2, a signaling component of the IL-12 receptor that couples to the JAK2/STAT4 pathway to promote T cell and NK cell proliferation and drive T helper 1 (Th1) differentiation through enhanced interferon-gamma production. Beyond canonical immune signaling, IL12RB2 demonstrates broader biological relevance: it is expressed in both hematopoietic cells and interfollicular keratinocytes, where IL-12 signaling protects skin barrier integrity and suppresses hyperproliferation 1. IL12RB2 expression is dysregulated in multiple inflammatory and autoimmune conditions. In systemic lupus erythematosus, IL12RB2 expression is significantly downregulated in CD4+ T cells, suggesting impaired Th1 responses 2. IL12RB2 genetic variants are recognized susceptibility factors for several diseases: Behçet's disease 3 4, myasthenia gravis 5, and lung adenocarcinoma, where reduced IL-12 signaling activity predisposes to disease 6. Additionally, IL12RB2 transcript levels are significantly elevated in idiopathic multicentric Castleman disease subtypes associated with worse outcomes, potentially contributing to cytokine storm pathology 7. The IL12RB2/TNFRSF8 expression ratio has diagnostic value for oral lichen planus 8. These findings establish IL12RB2 as a critical regulator of adaptive and innate immunity with substantial clinical implications across multiple disease contexts.

Sources cited
1
IL12RB2 is expressed in interfollicular keratinocytes where IL-12 signaling protects skin barrier integrity and blocks keratinocyte hyperproliferation in psoriasis
PMID: 34678045
2
IL12RB2 expression is significantly downregulated in CD4+ T cells from SLE patients compared to healthy controls
PMID: 36738683
3
IL-12 receptor β2 (IL-12RB2) is identified as a BD susceptibility gene through genome-wide association studies
PMID: 30341905
4
Polymorphisms in IL23R-IL12RB2 genes are associated with Behçet's disease susceptibility
PMID: 23138553
5
IL12RB2 polymorphisms associated with low signaling activity predispose to lung adenocarcinoma development
PMID: 26547104
6
IL12RB2 variants are associated with myasthenia gravis susceptibility through the IL12/STAT4 signaling pathway
PMID: 29576322
7
IL12RB2 transcript levels are significantly increased in iMCD-TAFRO/NOS compared to iMCD-IPL, correlating with enhanced inflammatory signaling
PMID: 39462545
8
IL12RB2/TNFRSF8 expression ratio can serve as a diagnostic biomarker for oral lichen planus
PMID: 25915578
Disease Associationsⓘ20
primary biliary cirrhosisOpen Targets
0.49Moderate
rheumatoid arthritisOpen Targets
0.48Moderate
Crohn's diseaseOpen Targets
0.46Moderate
systemic lupus erythematosusOpen Targets
0.46Moderate
systemic sclerodermaOpen Targets
0.44Moderate
biliary liver cirrhosisOpen Targets
0.43Moderate
Behcet's syndromeOpen Targets
0.42Moderate
hypothyroidismOpen Targets
0.40Moderate
psoriasisOpen Targets
0.37Weak
Mendelian susceptibility to mycobacterial diseasesOpen Targets
0.37Weak
enteritisOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
ulcerative colitisOpen Targets
0.34Weak
myositisOpen Targets
0.32Weak
small bowel Crohn's diseaseOpen Targets
0.32Weak
StutteringOpen Targets
0.32Weak
retinal degenerationOpen Targets
0.31Weak
vasculitisOpen Targets
0.31Weak
TicsOpen Targets
0.31Weak
polyarteritis nodosaOpen Targets
0.29Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IL2Protein interaction98%IL17AProtein interaction97%IL6Protein interaction97%TBX21Protein interaction95%IL2RAProtein interaction94%IL13Protein interaction93%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
71%
Liver
60%
Lung
47%
Heart
22%
Ovary
12%
Gene Interaction Network
Click a node to explore
IL12RB2IL2IL17AIL6TBX21IL2RAIL13
PROTEIN STRUCTURE
Preparing viewer…
PDB8YI7 · 3.57 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.55–1.01]
RankingsWhere IL12RB2 stands among ~20K protein-coding genes
  • #4,530of 20,598
    Most Researched105 · top quartile
  • #9,882of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedIL12RB2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrated analysis of ATAC-seq and RNA-seq reveals the transcriptional regulation network in SLE.
PMID: 36738683
Int Immunopharmacol · 2023
1.00
2
IL-12 regulates type 3 immunity through interfollicular keratinocytes in psoriasiform inflammation.
PMID: 34678045
Sci Immunol · 2021
0.90
3
Transcriptome analysis of the cytokine storm-related genes among the subtypes of idiopathic multicentric Castleman disease.
PMID: 39462545
J Clin Exp Hematop · 2024
0.80
4
The potential of interleukin 12 receptor beta 2 (IL12RB2) and tumor necrosis factor receptor superfamily member 8 (TNFRSF8) gene as diagnostic biomarkers of oral lichen planus (OLP).
PMID: 25915578
Acta Odontol Scand · 2015
0.70
5
Behçet's disease: An immunogenetic perspective.
PMID: 30341905
J Cell Physiol · 2019
0.60