IL18
interleukin 18
Summary
The protein encoded by this gene is a proinflammatory cytokine of the IL-1 family that is constitutively found as a precursor within the cytoplasm of a variety of cells including macrophages and keratinocytes. The inactive IL-18 precursor is processed to its active form by caspase-1, and is capable of stimulating interferon gamma production, and of regulating both T helper (Th) 1 and Th2 responses. This cytokine has been implicated in the injury of different organs, and in potentially fatal conditions characterized by a cytokine storm. In humans, IL-18 gene is located on chromosome 11. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2020]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs199644300 | 11:112,014,401 | C/T | — | uncertain significance |
| rs1364344013 | 11:112,014,503 | C/T | — | likely benign |
| rs3882891 | 11:112,014,761 | G/T | intron variant | — |
| rs5744280 | 11:112,016,514 | G/A | — | benign |
| rs780550512 | 11:112,020,805 | A/C | — | likely benign |
| rs549908 | 11:112,020,916 | T/G | synonymous variant | benign |
| rs5744256 | 11:112,022,848 | A/G | intron variant | — |
| rs5744254 | 11:112,023,436 | G/A | intron variant | — |
| rs1834481 | 11:112,023,827 | C/G | intron variant | — |
| rs5744251 | 11:112,024,331 | G/T | — | benign |
| rs5744249 | 11:112,025,306 | A/C | intron variant | — |
| rs1271061057 | 11:112,025,703 | A/C | — | uncertain significance |
| rs360721 | 11:112,025,916 | G/A | — | — |
| rs5744247 | 11:112,026,156 | G/C | regulatory region variant | — |
| rs360722 | 11:112,026,703 | A/G | regulatory region variant | benign |
| rs5744241 | 11:112,027,144 | T/C | regulatory region variant | — |
| rs2043055 | 11:112,031,624 | A/T | — | — |
| rs7106524 | 11:112,033,636 | G/A | regulatory region variant | — |
| rs360717 | 11:112,034,725 | G/A | regulatory region variant | — |
| rs360718 | 11:112,034,739 | A/C | regulatory region variant | — |
| rs187238 | 11:112,034,988 | C/A | — | — |
| rs1946518 | 11:112,035,458 | T/G | upstream gene variant | — |
| rs1946519 | 11:112,035,507 | A/C | upstream gene variant | — |
| rs360719 | 11:112,036,149 | A/G | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.