IL1B
interleukin 1 beta
Summary
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]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2853550 | 2:113,587,121 | A/T | — | — |
| rs1027456688 | 2:113,588,080 | T/C | — | uncertain significance |
| rs138009692 | 2:113,588,118 | C/T | — | likely benign |
| rs1143643 | 2:113,588,302 | C/A | — | — |
| rs1143642 | 2:113,588,553 | A/G | regulatory region variant | — |
| rs1143639 | 2:113,588,793 | C/T | intron variant | — |
| rs144433180 | 2:113,588,904 | C/T | — | uncertain significance |
| rs144640380 | 2:113,590,282 | T/G | — | uncertain significance |
| rs755362270 | 2:113,590,341 | G/C | — | uncertain significance |
| rs1143634 | 2:113,590,390 | G/A | synonymous variant | association |
| rs1682013606 | 2:113,590,396 | G/T | — | likely benign |
| rs752959492 | 2:113,590,402 | T/A | — | uncertain significance |
| rs1143633 | 2:113,590,467 | C/G | — | — |
| rs1402971251 | 2:113,591,014 | G/A | — | uncertain significance |
| rs16062 | 2:113,591,081 | G/A | — | likely benign |
| rs568715066 | 2:113,591,092 | C/T | — | uncertain significance |
| rs529396429 | 2:113,591,107 | G/T | — | uncertain significance |
| rs140794289 | 2:113,591,114 | G/A | — | benign |
| rs918845589 | 2:113,591,138 | G/T | — | uncertain significance |
| rs568691885 | 2:113,591,157 | G/A | — | likely benign |
| rs3917359 | 2:113,591,162 | G/A | — | benign |
| rs3136558 | 2:113,591,275 | A/G | regulatory region variant | — |
| rs1143630 | 2:113,591,655 | T/A | — | — |
| rs3917356 | 2:113,592,363 | C/T | regulatory region variant | — |
| rs281864746 | 2:113,592,760 | C/G | — | not provided |
| rs200223008 | 2:113,593,150 | T/C | — | uncertain significance |
| rs1143629 | 2:113,593,518 | G/C | — | — |
| rs376289593 | 2:113,593,779 | C/T | — | uncertain significance |
| rs1143627 | 2:113,594,387 | G/A | regulatory region variant | risk factor |
| rs16944 | 2:113,594,867 | A/G | upstream gene variant | association |
| rs3087258 | 2:113,594,871 | G/A | — | — |
| rs1143623 | 2:113,595,829 | C/G | upstream gene variant | association |
Gene information from NCBI Gene. Variant classifications from ClinVar.