IL18R1 Chromosome 2
Interleukin 18 receptor 1
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What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|Immunoglobulin like domain containing|Interleukin receptors|TIR domain containing"
Locus Type
gene with protein product
Location
2q12.1
Ensembl
ENSG00000115604
Associated Conditions (2)
Behcet disease
Ascending aortic dissection
Key Variants
RS12987977
association
Behcet disease, Behcet disease
Health Risk
RS2241116
association
Ascending aortic dissection, Ascending aortic dissection
Health Risk
RS3771172
association
Ascending aortic dissection, Ascending aortic dissection
Health Risk
RS4851569
association
Behcet disease, Behcet disease
Health Risk
RS12999364
Benign; association
Behcet disease, Behcet disease
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS12987977 | Health Risk | association | Behcet disease, Behcet disease |
| RS2241116 | Health Risk | association | Ascending aortic dissection, Ascending aortic dissection |
| RS3771172 | Health Risk | association | Ascending aortic dissection, Ascending aortic dissection |
| RS4851569 | Health Risk | association | Behcet disease, Behcet disease |
| RS12999364 | Health Risk | Benign; association | Behcet disease, Behcet disease |