IL18RAP
interleukin 18 receptor accessory protein
Summary
The protein encoded by this gene is an accessory subunit of the heterodimeric receptor for interleukin 18 (IL18), a proinflammatory cytokine involved in inducing cell-mediated immunity. This protein enhances the IL18-binding activity of the IL18 receptor and plays a role in signaling by IL18. Mutations in this gene are associated with Crohn's disease and inflammatory bowel disease, and susceptibility to celiac disease and leprosy. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]
Known Variants52 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1807782 | 2:103,033,147 | C/T | upstream gene variant | — |
| rs2293225 | 2:103,035,889 | C/T | intron variant | — |
| rs542704451 | 2:103,039,025 | T/A | — | — |
| rs771738642 | 2:103,039,774 | G/T | — | likely benign |
| rs2272127 | 2:103,039,873 | C/G | intron variant | — |
| rs1203433158 | 2:103,040,282 | A/G | — | uncertain significance |
| rs750538918 | 2:103,040,297 | A/G | — | likely benign |
| rs2529559743 | 2:103,040,564 | G/C | — | uncertain significance |
| rs1359318508 | 2:103,040,726 | T/C | — | uncertain significance |
| rs141761747 | 2:103,040,732 | A/C | — | uncertain significance |
| rs150564503 | 2:103,040,785 | G/T | — | likely benign |
| rs887971 | 2:103,041,167 | C/T | — | association |
| rs147479560 | 2:103,041,254 | A/G | regulatory region variant | — |
| rs62154969 | 2:103,044,587 | G/A | upstream gene variant | — |
| rs11694658 | 2:103,045,020 | A/T | — | — |
| rs6755786 | 2:103,048,103 | C/T | upstream gene variant | — |
| rs6543134 | 2:103,050,458 | T/G | coding sequence variant | — |
| rs139411373 | 2:103,052,104 | C/T | upstream gene variant | — |
| rs2110734 | 2:103,052,206 | C/G | — | — |
| rs192180864 | 2:103,053,077 | C/T | regulatory region variant | — |
| rs201710233 | 2:103,053,710 | C/T | — | likely benign |
| rs752815224 | 2:103,053,711 | G/A | — | uncertain significance |
| rs757008276 | 2:103,053,723 | G/A | — | likely benign |
| rs199973544 | 2:103,053,769 | C/T | — | uncertain significance |
| rs140983423 | 2:103,053,816 | A/G | — | uncertain significance |
| rs2058660 | 2:103,054,449 | G/A | upstream gene variant | — |
| rs11465699 | 2:103,054,767 | G/A | upstream gene variant | — |
| rs145473518 | 2:103,056,429 | C/G | coding sequence variant | — |
| rs1407138353 | 2:103,057,805 | A/T | — | uncertain significance |
| rs369446313 | 2:103,057,814 | A/G | — | uncertain significance |
| rs11465702 | 2:103,057,892 | A/G | downstream gene variant | — |
| rs771041735 | 2:103,059,695 | G/A | — | uncertain significance |
| rs2529655572 | 2:103,059,731 | T/C | — | uncertain significance |
| rs756587246 | 2:103,059,767 | G/T | — | uncertain significance |
| rs1558650 | 2:103,060,024 | T/A | — | association |
| rs4851584 | 2:103,060,313 | A/G | downstream gene variant | — |
| rs3771150 | 2:103,060,851 | G/A | downstream gene variant | — |
| rs147549317 | 2:103,060,864 | C/A | downstream gene variant | — |
| rs775122493 | 2:103,061,681 | A/G | — | uncertain significance |
| rs2529666255 | 2:103,061,690 | T/A | — | uncertain significance |
| rs11465716 | 2:103,061,776 | G/A | — | benign |
| rs11465727 | 2:103,064,503 | A/C | — | — |
| rs552650320 | 2:103,067,331 | G/A | — | likely benign |
| rs564848851 | 2:103,067,758 | A/T | — | — |
| rs917998 | 2:103,068,156 | C/T | intron variant | — |
| rs373195600 | 2:103,068,328 | C/G | — | uncertain significance |
| rs149075315 | 2:103,068,382 | T/A | — | uncertain significance |
| rs200096865 | 2:103,068,483 | A/G | — | uncertain significance |
| rs183073098 | 2:103,068,490 | G/A | — | uncertain significance |
| rs756680929 | 2:103,068,538 | G/A | — | uncertain significance |
| rs748396280 | 2:103,068,565 | C/T | — | likely benign |
| rs7559479 | 2:103,068,787 | G/A | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.