IL1B Chromosome 2

Interleukin 1 beta
4 variants 4 Health Risk

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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
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
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