| Tbio | Interleukin-18 receptor accessory protein |
Within the IL18 receptor complex, does not mediate IL18-binding, but involved in IL18-dependent signal transduction, leading to NF-kappa-B and JNK activation.
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]
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]
Comments
Property Summary
| NCBI Gene PubMed Count | 42 |
| Grant Count | 3 |
| Funding | $699,371 |
| PubMed Score | 27.04 |
| PubTator Score | 35.61 |
| Disease | log2 FC | p |
|---|---|---|
| ulcerative colitis | 1.300 | 0.006 |
| cutaneous lupus erythematosus | 2.400 | 0.000 |
| psoriasis | 1.800 | 0.000 |
| osteosarcoma | -4.188 | 0.000 |
| non-small cell lung cancer | -1.588 | 0.000 |
| Common variable immunodeficiency | -1.037 | 0.012 |
| intraductal papillary-mucinous carcinoma... | -1.200 | 0.006 |
| intraductal papillary-mucinous neoplasm ... | -1.200 | 0.018 |
| lung cancer | -2.400 | 0.008 |
| interstitial cystitis | 1.400 | 0.011 |
| lung adenocarcinoma | -1.600 | 0.000 |
| lung carcinoma | -2.400 | 0.000 |
| mucosa-associated lymphoid tissue lympho... | 2.383 | 0.024 |
| PMID | Text |
|---|---|
| 26289103 | This meta-analysis provides robust estimates that IL18RAP rs917997 and chemokine (C-C motif) receptor 3 rs6441961 are potential risk factors for celiac disease in European populations. |
| 24842757 | results demonstrate clear functional consequences of the rs917997 risk polymorphism; this polymorphism leads to a loss-of-function through decreased IL-18RAP, IL-18R1, and IL-1R1 protein expression, which impairs autocrine IL-18 and IL-1 signaling |
| 23891168 | The SNP modified IL18RAP surface protein expression by NK cells. |
| 22685567 | Data indicate that MyD88 works together with the IL-1/IL-18 receptors, can interact with two distinct sorting adaptors, TRAM and Mal, in a conserved manner. |
| 22289858 | Data suggest that IL-18RAP and IL-18R1 single-nucleotide polymorphisms identify African-American infants at risk for bronchopulmonary dysplasia. |
| 21072187 | Observational study of gene-disease association. (HuGE Navigator) |
| 20647273 | Observational study of gene-disease association. (HuGE Navigator) |
| 20353565 | Observational study of gene-disease association. (HuGE Navigator) |
| 20237496 | Observational study of gene-disease association. (HuGE Navigator) |
| 20176734 | Observational study of gene-disease association. (HuGE Navigator) |
| More... |
MLCLGWIFLWLVAGERIKGFNISGCSTKKLLWTYSTRSEEEFVLFCDLPEPQKSHFCHRNRLSPKQVPEH 1 - 70 LPFMGSNDLSDVQWYQQPSNGDPLEDIRKSYPHIIQDKCTLHFLTPGVNNSGSYICRPKMIKSPYDVACC 71 - 140 VKMILEVKPQTNASCEYSASHKQDLLLGSTGSISCPSLSCQSDAQSPAVTWYKNGKLLSVERSNRIVVDE 141 - 210 VYDYHQGTYVCDYTQSDTVSSWTVRAVVQVRTIVGDTKLKPDILDPVEDTLEVELGKPLTISCKARFGFE 211 - 280 RVFNPVIKWYIKDSDLEWEVSVPEAKSIKSTLKDEIIERNIILEKVTQRDLRRKFVCFVQNSIGNTTQSV 281 - 350 QLKEKRGVVLLYILLGTIGTLVAVLAASALLYRHWIEIVLLYRTYQSKDQTLGDKKDFDAFVSYAKWSSF 351 - 420 PSEATSSLSEEHLALSLFPDVLENKYGYSLCLLERDVAPGGVYAEDIVSIIKRSRRGIFILSPNYVNGPS 421 - 490 IFELQAAVNLALDDQTLKLILIKFCYFQEPESLPHLVKKALRVLPTVTWRGLKSVPPNSRFWAKMRYHMP 491 - 560 VKNSQGFTWNQLRITSRIFQWKGLSRTETTGRSSQPKEW 561 - 599 //
| PMID | Year | Title |
|---|---|---|
| 26289103 | 2015 | Systematic review and meta-analysis of the association between IL18RAP rs917997 and CCR3 rs6441961 polymorphisms with celiac disease risks. |
| 25642632 | 2015 | Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy. |
| 24842757 | 2014 | The IL18RAP region disease polymorphism decreases IL-18RAP/IL-18R1/IL-1R1 expression and signaling through innate receptor-initiated pathways. |
| 23999434 | 2013 | Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling. |
| 23891168 | 2013 | The autoimmune disease-associated SNP rs917997 of IL18RAP controls IFN? production by PBMC. |
| 23817571 | 2013 | Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. |
| 23128233 | 2012 | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. |
| 23042114 | 2012 | Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. |
| 22685567 | 2012 | TRAM is involved in IL-18 signaling and functions as a sorting adaptor for MyD88. |
| 22289858 | 2012 | IL-18R1 and IL-18RAP SNPs may be associated with bronchopulmonary dysplasia in African-American infants. |
| More... |
