IL12B Gene - Interleukin 12B
Cytokine subunit involved in immune regulation and inflammatory diseases
Gene Information Card
| Symbol | IL12B |
|---|---|
| Full Name | Interleukin 12B |
| Gene Type | protein-coding |
| Chromosomal Location | 5q33.3 |
| NCBI Gene ID | 3593 ncbi.nlm.nih.gov/gene/3593 |
| Ensembl ID | ENSG00000113302 |
| UniProt ID | P29460 |
| OMIM ID | 161561 |
| HGNC ID | 5970 |
| Aliases | CLMF2, NKSF2, p40, IL-12B, IMD28, IMD29 |
Description
The IL12B gene encodes the p40 subunit of interleukin-12 (IL-12) and interleukin-23 (IL-23). This subunit is shared between the two cytokines and is essential for their biological activity. IL-12 promotes Th1 immune responses, while IL-23 supports Th17 cell maintenance. IL12B is primarily expressed in activated macrophages, dendritic cells, and monocytes. Genetic variants in IL12B are associated with susceptibility to psoriasis, Crohn disease, and other inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Psoriasis | IL12B variants increase IL-12/IL-23 signaling, promoting Th17-mediated inflammation | OMIM 605364; GWAS studies |
| Crohn disease | IL12B polymorphisms alter cytokine balance, contributing to intestinal inflammation | OMIM 266600; NCBI GeneReviews |
| Immunodeficiency 28 (IMD28) | Biallelic loss-of-function mutations impair IL-12/IL-23 signaling, leading to mycobacterial infections | OMIM 614891; ClinVar |
| Asthma | IL12B variants influence Th2/Th1 balance, affecting airway inflammation | NCBI PubMed; GWAS catalog |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 8.2 | High |
| Spleen | 6.5 | High |
| Bone marrow | 4.1 | Medium |
| Lung | 2.3 | Low |
| Small intestine | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 12.5 | Activated by LPS |
| U937 (macrophage) | 9.8 | Differentiated with PMA |
| Jurkat (T-cell) | 0.5 | Minimal expression |
| HEK293 (embryonic kidney) | 0.2 | Non-immune cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs3212227 | SNP (3' UTR) | 0.25 (global) | Alters mRNA stability; associated with psoriasis |
| rs6887695 | SNP (intronic) | 0.30 (global) | Linked to Crohn disease susceptibility |
| c.526C>T (p.Arg176Trp) | Missense | Rare | Loss of IL-12/IL-23 signaling; causes IMD28 |
| c.298G>A (p.Glu100Lys) | Missense | Rare | Impaired receptor binding; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Biallelic missense or nonsense mutations (e.g., p.Arg176Trp) disrupt IL-12/IL-23 signaling, leading to immunodeficiency (IMD28).
Gain of Function (GOF)
Not well characterized; some regulatory SNPs (e.g., rs3212227) may increase IL12B expression, contributing to inflammatory diseases.
Dominant Negative (DN)
No dominant-negative mutations reported for IL12B.
View complete mutation data：
Gene Ontology (GO)
| • cytokine activity (GO:0005125) | • protein binding (GO:0005515) |
| • extracellular space (GO:0005615) | • growth factor activity (GO:0008083) |
| • interleukin-12 receptor binding (GO:0038153) | • identical protein binding (GO:0042802) |
Pathways
• hsa04620 - Toll-like receptor signaling pathway
• hsa04659 - Th17 cell differentiation
• hsa04660 - T cell receptor signaling pathway
• hsa05140 - Leishmaniasis
• hsa05321 - Inflammatory bowel disease
Protein Summary
The IL12B protein (p40) is a 328-amino acid secreted subunit that forms disulfide-linked heterodimers with IL12A (p35) to produce IL-12, or with IL23A (p19) to produce IL-23. It contains an immunoglobulin-like domain and is essential for cytokine receptor binding. The protein is primarily produced by antigen-presenting cells and plays a key role in bridging innate and adaptive immunity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL12B Knockout HEK293 Cell Line | EDJ-KQ481 | Human | 3593 | Details Get a Quote |
| IL12B Knockout HeLa Cell Line | EDJ-KQ53648 | Human | 3593 | Details Get a Quote |
| IL12B Knockout A-549 Cell Line | EDJ-KQ62123 | Human | 3593 | Details Get a Quote |
| IL12B Knockout HCT 116 Cell Line | EDJ-KQ70612 | Human | 3593 | Details Get a Quote |
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