IL12RB2
Interleukin 12 Receptor Subunit Beta 2
Gene Information Card
| Symbol | IL12RB2 |
|---|---|
| Full Name | Interleukin 12 Receptor Subunit Beta 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p31.3 |
| NCBI Gene ID | 3595 ncbi.nlm.nih.gov/gene/3595 |
| Ensembl ID | ENSG00000181929 |
| UniProt ID | Q99665 |
| OMIM ID | 601642 |
| HGNC ID | 5974 |
| Aliases | IL-12R-BETA2, IL12RB1, IL-12R-beta2 |
Description
IL12RB2 encodes the beta 2 subunit of the interleukin 12 receptor, a type I transmembrane protein essential for IL-12 signaling. This receptor subunit is primarily expressed on activated T cells and natural killer cells, where it mediates Th1 differentiation and interferon-gamma production. Loss-of-function mutations in IL12RB2 are associated with increased susceptibility to mycobacterial infections and certain autoimmune conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mendelian susceptibility to mycobacterial diseases (MSMD) | Loss-of-function mutations impair IL-12 signaling, reducing IFN-gamma production and host defense against mycobacteria. | ClinVar, OMIM |
| Crohn's disease | Variants in IL12RB2 may alter Th1/Th17 balance, contributing to intestinal inflammation. | NCBI Gene, OMIM |
| Asthma | Polymorphisms in IL12RB2 have been linked to altered Th2 responses and asthma susceptibility. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.3 | Medium |
| Spleen | 10.8 | Medium |
| Lung | 2.1 | Low |
| Small intestine | 1.5 | Low |
| Whole blood | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NK-92 | 15.2 | Natural killer cell line |
| Jurkat | 8.7 | T-cell leukemia line |
| THP-1 | 0.3 | Monocytic line, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.119C>T (p.Pro40Leu) | Missense | Rare | Impaired IL-12 binding and signaling |
| c.1621C>T (p.Arg541*) | Nonsense | Rare | Truncated protein, loss of function |
| c.1978G>A (p.Val660Ile) | Missense | <0.1% | Reduced receptor surface expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt IL-12 binding or signal transduction, leading to MSMD.
Gain of Function (GOF)
Not reported in literature.
Dominant Negative (DN)
Not reported; IL12RB2 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • interleukin-12 receptor activity | • cytokine receptor activity |
| • signal transduction | • immune response |
| • cell surface receptor signaling pathway |
Pathways
• IL-12 signaling pathway
• JAK-STAT signaling pathway
• Th1 differentiation
• Natural killer cell mediated cytotoxicity
Protein Summary
IL12RB2 is a 862-amino acid transmembrane protein with an extracellular ligand-binding domain, a single transmembrane helix, and a cytoplasmic tail containing conserved Box1/Box2 motifs for JAK2 association. It forms a high-affinity receptor complex with IL12RB1 upon IL-12 binding, activating STAT4 phosphorylation and Th1 lineage commitment. The protein is predominantly expressed on activated T cells and NK cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL12RB2 Knockout HEK293 Cell Line | EDJ-KQ482 | Human | 3595 | Details Get a Quote |
| IL12RB2 Knockout HeLa Cell Line | EDJ-KQ53650 | Human | 3595 | Details Get a Quote |
| IL12RB2 Knockout A-549 Cell Line | EDJ-KQ62125 | Human | 3595 | Details Get a Quote |
| IL12RB2 Knockout HCT 116 Cell Line | EDJ-KQ70614 | Human | 3595 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
