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.

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 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
Displaying Records 1 To 15 Of 15 Records
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