IL18RAP interleukin 18 receptor accessory protein
Gene ID: 8807, updated on 11-Apr-2024Gene type: protein coding
Also known as: ACPL; CD218b; IL-1R7; IL18RB; CDw218b; IL-1R-7; IL-18RAcP; IL-1RAcPL; IL-18Rbeta; IL-18R-beta
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- Go to complete Gene record for IL18RAP
- Go to Variation Viewer for IL18RAP variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling. GeneReviews: Not available | |
| Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy. GeneReviews: Not available | |
| Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. GeneReviews: Not available | |
| Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. GeneReviews: Not available | |
| Multiple common variants for celiac disease influencing immune gene expression. GeneReviews: Not available | |
| Newly identified genetic risk variants for celiac disease related to the immune response. GeneReviews: Not available |
Genomic context
- Location:
- 2q12.1
- Sequence:
- Chromosome: 2; NC_000002.12 (102418621..102452565)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for IL18RAP variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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