IL10 Chromosome 1
Interleukin 10
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What This Gene Does
The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. Mutations in this gene are associated with an increased susceptibility to HIV-1 infection and rheumatoid arthritis. [provided by RefSeq, May 2020]
Gene Info
Gene Group
Interleukins
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000136634
Associated Conditions (9)
Inflammatory bowel disease
Rheumatoid arthritis
Susceptibility to HIV infection
Graft-versus-host disease
susceptibility to
Leprosy
1
Hepatitis C virus
progression of
Key Variants
RS145922845
Conflicting classifications of pathogenicity
Inflammatory bowel disease, Rheumatoid arthritis, Susceptibility to HIV infection
Health Risk
RS1800896
Pathogenic
Leprosy, susceptibility to, 1
Health Risk
RS587776843
Pathogenic
Rheumatoid arthritis, progression of, Rheumatoid arthritis
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145922845 | Health Risk | Conflicting classifications of pathogenicity | Inflammatory bowel disease, Rheumatoid arthritis, Susceptibility to HIV infection |
| RS1800896 | Health Risk | Pathogenic | Leprosy, susceptibility to, 1 |
| RS587776843 | Health Risk | Pathogenic | Rheumatoid arthritis, progression of, Rheumatoid arthritis |