IL18R1
interleukin 18 receptor 1
Summary
The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This receptor specifically binds interleukin 18 (IL18), and is essential for IL18 mediated signal transduction. IFN-alpha and IL12 are reported to induce the expression of this receptor in NK and T cells. This gene along with four other members of the interleukin 1 receptor family, including IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1 (T1/ST2), form a gene cluster on chromosome 2q. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4311080 | 2:102,970,816 | C/G | downstream gene variant | — |
| rs9807989 | 2:102,971,200 | T/G | — | — |
| rs13014644 | 2:102,971,363 | G/T | downstream gene variant | — |
| rs141579878 | 2:102,971,708 | G/A | downstream gene variant | — |
| rs13015714 | 2:102,971,865 | G/A | — | — |
| rs12999364 | 2:102,974,129 | C/T | — | association |
| rs12987977 | 2:102,975,336 | T/G | — | association |
| rs186081328 | 2:102,975,602 | G/A | intron variant | — |
| rs11123925 | 2:102,977,511 | G/A | intron variant | — |
| rs3755276 | 2:102,978,459 | C/T | intron variant | — |
| rs11465569 | 2:102,979,141 | C/G | — | benign |
| rs778597504 | 2:102,979,154 | G/C | — | uncertain significance |
| rs757943982 | 2:102,979,162 | A/G | — | likely benign |
| rs13006323 | 2:102,982,276 | C/T | — | — |
| rs1573895 | 2:102,982,876 | T/C | intron variant | — |
| rs4851569 | 2:102,983,247 | C/A | — | association |
| rs2058622 | 2:102,985,424 | A/G | intron variant | — |
| rs3771172 | 2:102,985,812 | C/T | — | association |
| rs3771171 | 2:102,985,950 | T/C | intron variant | — |
| rs3771167 | 2:102,986,188 | A/G | intron variant | — |
| rs3771166 | 2:102,986,222 | G/A | intron variant | — |
| rs76152249 | 2:102,986,357 | G/A | intron variant | — |
| rs1974675 | 2:102,986,375 | G/A | intron variant | — |
| rs183454870 | 2:102,987,064 | G/A | intron variant | — |
| rs141175169 | 2:102,987,170 | A/G | intron variant | — |
| rs11465597 | 2:102,987,213 | A/G | intron variant | — |
| rs6745614 | 2:102,991,213 | A/G | intron variant | — |
| rs780950445 | 2:102,992,374 | A/T | — | uncertain significance |
| rs115326837 | 2:102,992,407 | C/T | — | benign |
| rs2270297 | 2:102,992,675 | T/C | regulatory region variant | — |
| rs115532730 | 2:102,994,531 | T/C | intron variant | — |
| rs749556086 | 2:102,998,082 | C/T | — | uncertain significance |
| rs2529410743 | 2:102,998,121 | A/C | — | uncertain significance |
| rs7591246 | 2:102,999,403 | C/G | — | — |
| rs1035130 | 2:103,001,402 | C/T | synonymous variant | — |
| rs374788069 | 2:103,001,403 | G/A | — | uncertain significance |
| rs3755274 | 2:103,002,395 | A/G | intron variant | — |
| rs2241117 | 2:103,003,043 | T/C | intron variant | — |
| rs2241116 | 2:103,003,265 | A/C | — | association |
| rs577197301 | 2:103,003,419 | C/T | — | uncertain significance |
| rs757487327 | 2:103,003,450 | G/C | — | uncertain significance |
| rs2001461 | 2:103,007,220 | T/A | — | — |
| rs3860444 | 2:103,007,623 | A/G | intron variant | — |
| rs150437916 | 2:103,008,816 | A/G | intron variant | — |
| rs2529490110 | 2:103,013,074 | G/T | — | uncertain significance |
| rs201833291 | 2:103,013,104 | G/A | — | uncertain significance |
| rs2529490428 | 2:103,013,128 | A/G | — | uncertain significance |
| rs768192258 | 2:103,013,191 | C/G | — | uncertain significance |
| rs3732127 | 2:103,013,750 | G/T | — | — |
| rs11465660 | 2:103,014,314 | C/G | — | — |
| rs116643975 | 2:103,015,610 | G/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.