IL10 Gene (Interleukin 10): Function, Pathways, and Clinical Significance
A comprehensive overview of the IL10 gene, its protein product, expression patterns, associated diseases, and mutations, based on authoritative genomic databases.
Gene Information Card
| Symbol | IL10 |
|---|---|
| Full Name | Interleukin 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 3586 ncbi.nlm.nih.gov/gene/3586 |
| Ensembl ID | ENSG00000135862 |
| UniProt ID | P22301 |
| OMIM ID | 124092 |
| HGNC ID | 5962 |
| Aliases | CSIF; IL-10; GVHDS; IL10A; MGC126450; MGC126451; RP11-262N9.1 |
Description
The IL10 gene encodes interleukin-10 (IL-10), a potent anti-inflammatory cytokine that plays a critical role in immune regulation. It is produced by various immune cells, including T helper 2 (Th2) cells, regulatory T cells, macrophages, and dendritic cells. IL-10 inhibits the synthesis of pro-inflammatory cytokines (e.g., TNF-α, IL-1, IL-6) and suppresses antigen presentation and T cell activation. It is involved in the control of immune responses, inflammation, and autoimmunity. Dysregulation of IL10 expression is associated with several diseases, including autoimmune disorders, infectious diseases, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid Arthritis | Reduced IL-10 production leads to excessive pro-inflammatory cytokine activity, contributing to chronic joint inflammation. | Multiple studies, including GWAS and expression analyses, show association of IL10 polymorphisms with RA susceptibility and severity. |
| Systemic Lupus Erythematosus (SLE) | Altered IL-10 levels (often elevated) can disrupt immune tolerance and promote autoantibody production. | Elevated serum IL-10 is observed in SLE patients; IL10 variants are linked to disease risk in some populations. |
| Inflammatory Bowel Disease (IBD) | IL-10 deficiency or impaired signaling results in uncontrolled intestinal inflammation. | Mouse models with IL10 knockout develop colitis; human mutations in IL10 or its receptor cause early-onset IBD. |
| Asthma | IL-10 modulates allergic inflammation; reduced levels may enhance Th2 responses. | Association studies have linked IL10 promoter polymorphisms with asthma susceptibility. |
| Cancer (e.g., lymphoma, melanoma) | Tumor-derived IL-10 can suppress anti-tumor immunity, promoting immune evasion. | Elevated IL-10 expression in tumor microenvironments correlates with poor prognosis in several cancers. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 0.8 | Low |
| Lymph Node | 0.5 | Low |
| Bone Marrow | 0.3 | Low |
| Whole Blood | 0.2 | Low |
| Lung | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocytic leukemia) | 0.0 | Not expressed under basal conditions; inducible by LPS. |
| K-562 (chronic myelogenous leukemia) | 0.0 | Not expressed. |
| HeLa (cervical carcinoma) | 0.0 | Not expressed. |
| A549 (lung carcinoma) | 0.0 | Not expressed. |
| MCF7 (breast carcinoma) | 0.0 | Not expressed. |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1800896 (A/G) | SNP (promoter) | G allele frequency ~0.5 | Associated with altered IL-10 production; linked to disease susceptibility (e.g., SLE, RA). |
| rs1800871 (C/T) | SNP (promoter) | T allele frequency ~0.3 | May affect IL-10 expression; implicated in infectious and autoimmune diseases. |
| rs1800872 (C/A) | SNP (promoter) | A allele frequency ~0.3 | Associated with differential IL-10 secretion; studied in cancer and inflammatory diseases. |
| c.537G>A (p.Met179Ile) | Missense | Rare | Potential functional impact; reported in patients with inflammatory bowel disease. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in IL10 (e.g., rare missense variants) impair IL-10 production or signaling, leading to excessive inflammation and early-onset IBD.
Gain of Function (GOF)
Gain-of-function mutations are not well-documented; however, certain promoter polymorphisms (e.g., -1082G) are associated with higher IL-10 production, which may contribute to immune suppression in cancer.
Dominant Negative (DN)
No dominant-negative mutations have been reported for IL10.
View complete mutation data:
Gene Ontology (GO)
| • cytokine activity | • interleukin-10 receptor binding |
| • immune response | • negative regulation of inflammatory response |
| • positive regulation of B cell proliferation | • regulation of T cell proliferation |
Pathways
• IL-10 signaling pathway
• Cytokine-cytokine receptor interaction
• JAK-STAT signaling pathway
• Toll-like receptor signaling pathway (regulation)
Protein Summary
Interleukin-10 (IL-10) is a homodimeric cytokine of 178 amino acids (mature form) with a molecular weight of ~18.6 kDa per monomer. It is composed of two interpenetrating alpha-helical domains. IL-10 binds to a heterotetrameric receptor complex consisting of IL-10RA and IL-10RB, activating JAK1/TYK2 and STAT3 signaling. This leads to anti-inflammatory responses, including inhibition of pro-inflammatory cytokine production and downregulation of MHC class II on antigen-presenting cells. IL-10 is crucial for maintaining immune homeostasis and preventing excessive tissue damage during infection and inflammation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL10RA Knockout HEK293 Cell Line | EDJ-KQ478 | Human | 3587 | Details Get a Quote |
| IL10RB Knockout HeLa Cell Line | EDJ-KQ17949 | Human | 3588 | Details Get a Quote |
| IL10RA Knockout HCT 116 Cell Line | EDJ-KQ18789 | Human | 3587 | Details Get a Quote |
| IL10 Knockout HEK293 Cell Line | EDJ-KQ50389 | Human | 3586 | Details Get a Quote |
| IL10RB Knockout HEK293 Cell Line | EDJ-KQ50390 | Human | 3588 | Details Get a Quote |
| IL10 Knockout HeLa Cell Line | EDJ-KQ53644 | Human | 3586 | Details Get a Quote |
| IL10RA Knockout HeLa Cell Line | EDJ-KQ53645 | Human | 3587 | Details Get a Quote |
| IL10 Knockout A-549 Cell Line | EDJ-KQ62119 | Human | 3586 | Details Get a Quote |
| IL10RA Knockout A-549 Cell Line | EDJ-KQ62120 | Human | 3587 | Details Get a Quote |
| IL10RB Knockout A-549 Cell Line | EDJ-KQ62121 | Human | 3588 | Details Get a Quote |
| IL10 Knockout HCT 116 Cell Line | EDJ-KQ70608 | Human | 3586 | Details Get a Quote |
| IL10RB Knockout HCT 116 Cell Line | EDJ-KQ70609 | Human | 3588 | Details Get a Quote |
| IL10 Knockdown RAW 264.7 stable cell line | EDJ-KD004 | Mouse | 3586 | 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 |
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