IL10RB Gene
Interleukin 10 Receptor Subunit Beta: A Key Component in Cytokine Signaling and Immune Regulation
Gene Information Card
| Symbol | IL10RB |
|---|---|
| Full Name | Interleukin 10 Receptor Subunit Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 3588 ncbi.nlm.nih.gov/gene/3588 |
| Ensembl ID | ENSG00000100251 |
| UniProt ID | Q08334 |
| OMIM ID | 123889 |
| HGNC ID | 5965 |
| Aliases | CRFB4, D21S58, IL-10R2, IL-10RB, CDW210B |
Description
The IL10RB gene encodes the beta subunit of the interleukin-10 receptor (IL-10R2), a transmembrane protein essential for mediating the anti-inflammatory and immunomodulatory effects of interleukin-10 (IL-10). This subunit is also shared by receptors for other cytokines, including IL-22, IL-26, IL-28A, IL-28B, and IL-29, making it a critical component in the signaling pathways of the IL-10 family of cytokines. Mutations in IL10RB are associated with early-onset inflammatory bowel disease and other immune dysregulation disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory Bowel Disease 28 (IBD28) | Loss-of-function mutations impair IL-10 signaling, leading to uncontrolled intestinal inflammation | ClinVar, OMIM |
| Primary immunodeficiency with defective IL-10 signaling | Disrupted IL-10 receptor function compromises immune regulation, increasing susceptibility to infections and autoinflammation | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 11.8 | Medium |
| Small intestine | 10.2 | Medium |
| Colon | 9.7 | Medium |
| Lung | 8.4 | Medium |
| Bone marrow | 7.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Monocytes | 15.3 | High expression |
| Macrophages | 14.1 | High expression |
| B lymphocytes | 12.0 | Medium expression |
| T lymphocytes | 10.5 | Medium expression |
| Dendritic cells | 13.2 | High expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.537G>A (p.Trp179*) | Nonsense | Rare | Loss of function; truncated protein |
| c.676C>T (p.Arg226*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.800T>C (p.Leu267Pro) | Missense | Rare | Loss of function; impaired receptor signaling |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in IL10RB disrupt IL-10 receptor signaling, leading to defective anti-inflammatory responses and contributing to severe early-onset inflammatory bowel disease.
Gain of Function (GOF)
No gain-of-function mutations have been reported for IL10RB.
Dominant Negative (DN)
No dominant-negative mutations have been described for IL10RB.
View complete mutation data:
Gene Ontology (GO)
| • Interleukin-10 receptor activity | • Interleukin-22 receptor activity |
| • Interleukin-28 receptor activity | • Cytokine receptor activity |
| • Signal transduction | • Immune response |
| • Cell surface receptor signaling pathway |
Pathways
• IL-10 signaling pathway
• IL-22 signaling pathway
• IL-28/29 (IFN-lambda) signaling pathway
• Cytokine-cytokine receptor interaction
Protein Summary
The IL-10 receptor beta (IL-10R2) is a type I transmembrane protein that forms a functional receptor complex with the alpha subunit (IL-10R1) for IL-10 binding. It is also a shared component of receptors for IL-22, IL-26, and type III interferons (IFN-lambda). The protein contains extracellular fibronectin type III domains and a cytoplasmic region that associates with JAK1 and TYK2 kinases to activate STAT3 signaling. IL-10R2 is ubiquitously expressed, with higher levels in immune cells, and is essential for mediating the anti-inflammatory effects of IL-10.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL10RB Knockout HeLa Cell Line | EDJ-KQ17949 | Human | 3588 | Details Get a Quote |
| IL10RB Knockout HEK293 Cell Line | EDJ-KQ50390 | Human | 3588 | Details Get a Quote |
| IL10RB Knockout A-549 Cell Line | EDJ-KQ62121 | Human | 3588 | Details Get a Quote |
| IL10RB Knockout HCT 116 Cell Line | EDJ-KQ70609 | Human | 3588 | Details Get a Quote |
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