Interleukin-23 receptor
Interleukin 23 receptor is a type I cytokine receptor. IL23R is its human gene.[1]
The protein encoded by this gene is a subunit of the receptor for IL23A/IL23. This protein pairs with the receptor molecule IL12RB1/IL12Rbeta1, and both are required for IL23A signaling. This protein associates constitutively with Janus kinase 2 (JAK2), and also binds to transcription activator STAT3 in a ligand-dependent manner.[1]
Clinical significance
Mutations in the IL23R gene were linked to Crohn's disease.[2]
References
- ↑ 1.0 1.1 "Entrez Gene: IL23R interleukin 23 receptor".
- ↑ Diegelmann, J.; Czamara, D.; Le Bras, E.; Zimmermann, E.; Olszak, T.; Bedynek, A.; Göke, B.; Franke, A. et al. (2013). "Intestinal DMBT1 expression is modulated by Crohn's disease-associated IL23R variants and by a DMBT1 variant which influences binding of the transcription factors CREB1 and ATF-2.". PLoS One 8 (11): e77773. doi:10.1371/journal.pone.0077773. PMID 24223725.
Further reading
- Parham C, Chirica M, Timans J et al. (2002). "A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R.". J. Immunol. 168 (11): 5699–708. doi:10.4049/jimmunol.168.11.5699. PMID 12023369.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Gerhard DS, Wagner L, Feingold EA et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Zhang XY, Zhang HJ, Zhang Y et al. (2006). "Identification and expression analysis of alternatively spliced isoforms of human interleukin-23 receptor gene in normal lymphoid cells and selected tumor cells.". Immunogenetics 57 (12): 934–43. doi:10.1007/s00251-005-0067-0. PMID 16372191.
- Gregory SG, Barlow KF, McLay KE et al. (2006). "The DNA sequence and biological annotation of human chromosome 1.". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
- Duerr RH, Taylor KD, Brant SR et al. (2006). "A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.". Science 314 (5804): 1461–3. doi:10.1126/science.1135245. PMID 17068223.
- Cargill M, Schrodi SJ, Chang M et al. (2007). "A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.". Am. J. Hum. Genet. 80 (2): 273–90. doi:10.1086/511051. PMC 1785338. PMID 17236132.
- Dubinsky MC, Wang D, Picornell Y et al. (2007). "IL-23 receptor (IL-23R) gene protects against pediatric Crohn's disease.". Inflamm. Bowel Dis. 13 (5): 511–5. doi:10.1002/ibd.20126. PMC 2169293. PMID 17309073.
- Tremelling M, Cummings F, Fisher SA et al. (2007). "IL23R variation determines susceptibility but not disease phenotype in inflammatory bowel disease.". Gastroenterology 132 (5): 1657–64. doi:10.1053/j.gastro.2007.02.051. PMC 2696256. PMID 17484863.
- Cummings JR, Ahmad T, Geremia A et al. (2007). "Contribution of the novel inflammatory bowel disease gene IL23R to disease susceptibility and phenotype.". Inflamm. Bowel Dis. 13 (9): 1063–8. doi:10.1002/ibd.20180. PMID 17508420.
- Yamazaki K, Onouchi Y, Takazoe M et al. (2007). "Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients.". J. Hum. Genet. 52 (7): 575–83. doi:10.1007/s10038-007-0156-z. PMID 17534574.
- Baldassano RN, Bradfield JP, Monos DS et al. (2007). "Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease.". Clin. Gastroenterol. Hepatol. 5 (8): 972–6. doi:10.1016/j.cgh.2007.04.024. PMID 17618837.
- Sánchez E, Rueda B, Callejas JL et al. (2007). "Analysis of interleukin-23 receptor (IL23R) gene polymorphisms in systemic lupus erythematosus.". Tissue Antigens 70 (3): 233–7. doi:10.1111/j.1399-0039.2007.00881.x. PMID 17661912.
- Orozco G, Rueda B, Robledo G et al. (2007). "Investigation of the IL23R gene in a Spanish rheumatoid arthritis cohort.". Hum. Immunol. 68 (8): 681–4. doi:10.1016/j.humimm.2007.05.008. PMID 17678723.
- Oliver J, Rueda B, López-Nevot MA et al. (2007). "Replication of an association between IL23R gene polymorphism with inflammatory bowel disease.". Clin. Gastroenterol. Hepatol. 5 (8): 977–81, 981.e1–2. doi:10.1016/j.cgh.2007.05.002. PMID 17678845.
- Raelson JV, Little RD, Ruether A et al. (2007). "Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.". Proc. Natl. Acad. Sci. U.S.A. 104 (37): 14747–52. doi:10.1073/pnas.0706645104. PMC 1965486. PMID 17804789.
- Borgiani P, Perricone C, Ciccacci C et al. (2007). "Interleukin-23R Arg381Gln is associated with susceptibility to Crohn's disease but not with phenotype in an Italian population.". Gastroenterology 133 (3): 1049–51; author reply 1051–2. doi:10.1053/j.gastro.2007.07.013. PMID 17854611.
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