IL18RAP
Interleukin 18 Receptor Accessory Protein
Gene Information Card
| Symbol | IL18RAP |
|---|---|
| Full Name | Interleukin 18 Receptor Accessory Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 2q12.1 |
| NCBI Gene ID | 8807 ncbi.nlm.nih.gov/gene/8807 |
| Ensembl ID | ENSG00000115607 |
| UniProt ID | O95256 |
| OMIM ID | 604509 |
| HGNC ID | 5989 |
| Aliases | IL-18RAP, IL-18RAcP, IL18RAcP, ACPL, CD218b |
Description
IL18RAP encodes the accessory subunit of the interleukin-18 receptor complex. This protein is essential for high-affinity binding of IL-18 and subsequent signal transduction via NF-kB and MAPK pathways. It is expressed primarily on immune cells and plays a critical role in Th1 and NK cell responses. Variants in IL18RAP are associated with inflammatory and autoimmune diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory Bowel Disease (Crohn's disease) | Risk variants in IL18RAP alter IL-18 signaling, promoting intestinal inflammation | GWAS (PMID: 21102463) |
| Asthma | Polymorphisms affect IL-18-mediated Th2 responses | Association study (PMID: 20032319) |
| Celiac Disease | IL18RAP variants modulate immune response to gluten | GWAS (PMID: 20190752) |
| Rheumatoid Arthritis | Dysregulated IL-18 signaling contributes to synovial inflammation | Case-control study (PMID: 17982456) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.3 | Low |
| Lung | 4.2 | Low |
| Small intestine | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NK-92 (NK cell line) | 18.7 | High expression |
| THP-1 (monocyte) | 9.4 | Moderate expression |
| Jurkat (T cell) | 6.2 | Low expression |
| HeLa (cervical) | 1.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs917997 (intronic) | SNP | 0.25 (European) | Associated with increased Crohn's disease risk |
| rs1420106 (intronic) | SNP | 0.30 (European) | Associated with asthma susceptibility |
| rs13015714 (intronic) | SNP | 0.18 (European) | Associated with celiac disease |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • interleukin-18 receptor activity (GO:0017134) | • interleukin-18 binding (GO:0017135) |
| • signal transduction (GO:0007165) | • immune response (GO:0006955) |
| • cell surface (GO:0009986) |
Pathways
• IL-18 signaling pathway (Reactome: R-HSA-448424)
• NF-kB activation (Reactome: R-HSA-168256)
• MAPK cascade (Reactome: R-HSA-5683057)
Protein Summary
IL18RAP is a type I transmembrane glycoprotein of 599 amino acids. It forms a heterodimeric receptor complex with IL18R1 upon IL-18 binding. The intracellular domain contains Toll/IL-1 receptor (TIR) motifs that recruit MyD88 and IRAK kinases, leading to NF-kB and MAPK activation. It is essential for IL-18-mediated IFN-gamma production in Th1 and NK cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL18RAP Knockout HEK293 Cell Line | EDJ-KQ6370 | Human | 8807 | Details Get a Quote |
| IL18RAP Knockout HeLa Cell Line | EDJ-KQ55009 | Human | 8807 | Details Get a Quote |
| IL18RAP Knockout A-549 Cell Line | EDJ-KQ63491 | Human | 8807 | Details Get a Quote |
| IL18RAP Knockout HCT 116 Cell Line | EDJ-KQ71961 | Human | 8807 | Details Get a Quote |
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