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IL10RA
interleukin 10 receptor subunit alpha
IL10RA is located on the long (q) arm of chromosome 11, at band 11q23.3. Arm ratio per GRCh38 - banding schematic.
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Overview
The IL10RA gene, located on chromosome 11, encodes the alpha subunit of the interleukin-10 receptor. This receptor plays a central role in regulating the immune system's inflammatory responses. Interleukin-10 (IL-10) is a cytokine that acts as a brake on immune activity, preventing excessive inflammation that could damage healthy tissue. The IL10RA-encoded protein forms part of the receptor complex that detects IL-10 signals and transmits them into immune cells, particularly monocytes, macrophages, and T cells. When this signalling pathway functions properly, it helps maintain immune homeostasis and protects against both inadequate and overactive immune responses.
What the gene does
The IL10RA protein functions as the ligand-binding component of the interleukin-10 receptor complex. When IL-10 binds to this alpha subunit, it triggers the assembly of a complete receptor complex that includes a beta subunit (encoded by IL10RB). This assembly activates intracellular signalling cascades, primarily through the JAK-STAT pathway, which regulates the expression of genes involved in inflammation control. The receptor's activity influences how immune cells respond to pathogens and other threats, modulating the production of pro-inflammatory cytokines and chemokines. By transmitting anti-inflammatory signals, the IL10RA protein helps prevent chronic inflammation and supports the resolution of immune responses after an infection has been cleared. The protein is particularly important in the intestinal immune system, where it helps maintain tolerance to harmless food antigens and commensal bacteria whilst still allowing protective responses to pathogens.
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Chromosome location
IL10RA is located on the long arm of chromosome 11 at position 23.3 (11q23.3). This chromosomal region contains several genes involved in immune function and inflammatory regulation. The precise genomic architecture and exon count contribute to the production of the 578-amino-acid receptor protein through standard transcription and translation processes.
Protein structure
The IL10RA protein comprises 578 amino acids organised into distinct functional regions. A disordered region spans amino acids 313 to 436, providing flexibility that may facilitate protein-protein interactions or conformational changes during receptor signalling. The protein also contains a BTRC recognition motif at positions 318 to 323, which may be involved in regulated protein degradation pathways that control receptor turnover and signalling duration. The extracellular portion of the protein contains the IL-10 binding domain, whilst the intracellular region interacts with signalling molecules that propagate the anti-inflammatory signal into the cell.
Key variants
Genetic variants in IL10RA can affect how effectively the receptor binds interleukin-10 or transmits signals into immune cells. Because IL10RA contributes to polygenic traits related to immune regulation, variants may influence susceptibility to inflammatory and autoimmune conditions through complex interactions with other genetic and environmental factors. The overall impact of any single variant depends on the broader genetic background and the specific cellular context in which the receptor functions.
Sample of pathogenic variants
10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.301C>T | p.Arg101Trp | Pathogenic/Likely pathogenic | ★★☆☆ | IL10RA-related disorder |
c.349C>T | p.Arg117Cys | Pathogenic | ★★☆☆ | Inflammatory bowel disease 28 |
c.493C>T | p.Arg165Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Inflammatory bowel disease 28 |
c.537G>A | p.Thr179= | Pathogenic/Likely pathogenic | ★★☆☆ | Inflammatory bowel disease 28 |
c.634C>T | p.Arg212Ter | Pathogenic | ★★☆☆ | Inflammatory bowel disease 28 |
c.258_279dup | p.Asn94fs | Pathogenic | ★☆☆☆ | Inflammatory bowel disease 28 |
c.439_452del | p.Arg147fs | Pathogenic | ★☆☆☆ | Inflammatory bowel disease 28 |
c.470A>G | p.Tyr157Cys | Pathogenic | ★☆☆☆ | Inflammatory bowel disease 28 |
c.501T>G | p.Tyr167Ter | Pathogenic | ★☆☆☆ | Inflammatory bowel disease 28 |
c.99G>A | p.Trp33Ter | Pathogenic | ★☆☆☆ | Inflammatory bowel disease 28 |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Variation in IL10RA has been studied in the context of autoimmune diseases and inflammatory bowel conditions, where the balance of pro-inflammatory and anti-inflammatory signals is critical. Research suggests that altered IL-10 receptor signalling may contribute to the development or severity of conditions characterised by inappropriate immune activation. However, because IL10RA is classified as part of polygenic panels, its relationship to disease typically involves the combined effects of multiple genes rather than single-gene causation. Understanding an individual's IL10RA variants is one piece of a larger genetic picture in autoimmune susceptibility.
No disease links recorded for this gene in our reference set.
UK clinical status
Within the UK NHS Genomic Medicine Service, IL10RA appears on several specialist gene panels that support clinical genomic testing. The gene is included on the COVID-19 research panel, the gastrointestinal epithelial barrier disorders panel, and both infantile enterocolitis and primary immunodeficiency or monogenic inflammatory bowel disease panels (classified as green or R15 status). These panel memberships reflect clinical evidence linking IL10RA to immune-mediated intestinal conditions and the gene's broader role in immune regulation research.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What does the IL10RA gene do?
IL10RA encodes the alpha subunit of the interleukin-10 receptor, which binds to IL-10 and initiates anti-inflammatory signalling in immune cells. This helps control excessive inflammation and maintain immune balance.
Is IL10RA associated with any specific diseases?
IL10RA is part of polygenic panels related to autoimmune conditions and inflammatory bowel disease. Its contribution to disease risk typically involves interactions with multiple other genes rather than acting alone.
Why is IL10RA included on NHS gene panels?
IL10RA appears on several NHS panels because clinical evidence links it to immune-mediated intestinal disorders, primary immunodeficiency, and inflammatory bowel disease. Its inclusion supports genomic testing for these conditions within the NHS Genomic Medicine Service.