IL10RA Gene: Interleukin-10 Receptor Subunit Alpha
Key regulator of anti-inflammatory responses; mutations cause IBD and related immune disorders
Gene Information Card
| Symbol | IL10RA |
|---|---|
| Full Name | Interleukin 10 receptor subunit alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 3587 ncbi.nlm.nih.gov/gene/3587 |
| Ensembl ID | ENSG00000110324 |
| UniProt ID | Q13651 |
| OMIM ID | 146933 |
| HGNC ID | 5964 |
| Aliases | CD210a, CDw210a, IL-10R1, IL10R, IL10RA, CD210 |
Description
The IL10RA gene encodes the alpha subunit of the interleukin-10 receptor, a heterotetrameric complex that mediates the anti-inflammatory and immunosuppressive effects of IL-10. This receptor is expressed on various immune cells and is critical for limiting inflammatory responses. Mutations in IL10RA lead to loss of IL-10 signaling, resulting in severe, early-onset inflammatory bowel disease and other immune dysregulation disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory bowel disease 28 (early-onset) | Loss-of-function mutations impair IL-10 signaling, leading to uncontrolled intestinal inflammation. | OMIM #613148; ClinVar |
| Very early onset inflammatory bowel disease (VEO-IBD) | Biallelic mutations cause complete IL-10 receptor deficiency, resulting in severe colitis in infancy. | OMIM; PubMed |
| Susceptibility to infections (e.g., severe viral infections) | Impaired IL-10 response may alter immune regulation, increasing susceptibility to certain pathogens. | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.2 | Low |
| Blood | 7.5 | Low |
| Small intestine | 4.3 | Low |
| Colon | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.2 | High expression |
| K-562 (lymphoblast) | 8.7 | Moderate |
| HeLa (cervical) | 2.1 | Low |
| A549 (lung) | 1.8 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.537G>A (p.Trp179Ter) | Nonsense | Rare | Loss of function; truncated protein |
| c.724C>T (p.Arg242Ter) | Nonsense | Rare | Loss of function; premature stop |
| c.1157A>G (p.Tyr386Cys) | Missense | Rare | Loss of function; impaired signaling |
| c.1196T>C (p.Leu399Pro) | Missense | Rare | Loss of function; structural disruption |
Mutation functional classification
Loss of Function (LOF)
Most IL10RA mutations are loss-of-function, leading to defective IL-10 receptor signaling and uncontrolled inflammation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for IL10RA.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with the wild-type receptor complex, though this is not fully established.
View complete mutation data：
Gene Ontology (GO)
| • interleukin-10 receptor activity | • interleukin-10 binding |
| • cytokine receptor activity | • protein homodimerization activity |
| • signal transduction | • immune response |
| • inflammatory response | • negative regulation of cytokine production |
Pathways
• IL-10 signaling pathway
• Cytokine-cytokine receptor interaction
• JAK-STAT signaling pathway
• Immune system
Protein Summary
The IL10RA protein is a 578-amino acid type I transmembrane glycoprotein. It consists of an extracellular domain that binds IL-10, a transmembrane region, and a cytoplasmic domain that associates with JAK1. Upon IL-10 binding, the receptor complex activates JAK1 and TYK2, leading to STAT3 phosphorylation and downstream anti-inflammatory gene expression. The protein is essential for limiting immune responses and maintaining intestinal homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL10RA Knockout HEK293 Cell Line | EDJ-KQ478 | Human | 3587 | Details Get a Quote |
| IL10RA Knockout HCT 116 Cell Line | EDJ-KQ18789 | Human | 3587 | Details Get a Quote |
| IL10RA Knockout HeLa Cell Line | EDJ-KQ53645 | Human | 3587 | Details Get a Quote |
| IL10RA Knockout A-549 Cell Line | EDJ-KQ62120 | Human | 3587 | Details Get a Quote |
| IL10RA(p.Thr179=, c.G537A)Point Mutation in HEK293 Cell Line | EDC90038 | Human | 3587 | Details Get a Quote |
| IL10RA(p.R101W, c.301C>T)Point Mutation in HEK293 Cell Line | EDC90035 | Human | 3587 | Details Get a Quote |
Displaying Records 1 To 6 Of 6 Records
