IL1B Chromosome 2
Interleukin 1 beta
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What This Gene Does
The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis. The induction of cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central nervous system (CNS) is found to contribute to inflammatory pain hypersensitivity. Similarly, IL-1B has been implicated in human osteoarthritis pathogenesis. Patients with severe Coronavirus Disease 2019 (COVID-19) present elevated levels of pro-inflammatory cytokines such as IL-1B in bronchial alveolar lavage fluid samples. The lung damage induced by the Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is to a large extent, a result of the inflammatory response promoted by cytokines such as IL-1B. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. [provided by RefSeq, Jul 2020]
Gene Info
Gene Group
Interleukins
Locus Type
gene with protein product
Location
2q14.1
Ensembl
ENSG00000125538
Associated Conditions (5)
Antisynthetase syndrome
Endometriosis
Cholangiocarcinoma
IL1B-related disorder
Gastric cancer susceptibility after h. pylori infection
Key Variants
RS1143623
association
Antisynthetase syndrome, Antisynthetase syndrome
Health Risk
RS16944
association
Antisynthetase syndrome, Antisynthetase syndrome
Health Risk
RS1143634
Benign; Affects; association; other
Antisynthetase syndrome, Endometriosis, Cholangiocarcinoma
Health Risk
RS1143627
risk factor
Gastric cancer susceptibility after h. pylori infection, Gastric cancer susceptibility after h. pylori infection
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1143623 | Health Risk | association | Antisynthetase syndrome, Antisynthetase syndrome |
| RS16944 | Health Risk | association | Antisynthetase syndrome, Antisynthetase syndrome |
| RS1143634 | Health Risk | Benign; Affects; association; other | Antisynthetase syndrome, Endometriosis, Cholangiocarcinoma |
| RS1143627 | Health Risk | risk factor | Gastric cancer susceptibility after h. pylori infection, Gastric cancer susceptibility after h. pylori infection |