IL18RAP Chromosome 2

Interleukin 18 receptor accessory protein
2 variants 2 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|Immunoglobulin like domain containing|Interleukin receptors|TIR domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
2q12.1
Ensembl
ENSG00000115607
Associated Conditions (1)
Ascending aortic dissection
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS1558650 Health Risk association Ascending aortic dissection, Ascending aortic dissection
RS887971 Health Risk association Ascending aortic dissection, Ascending aortic dissection
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