Interleukin-23 receptor

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

Interleukin-23 receptor is a type I cytokine receptor. IL23R is the name of its human gene.

Function

The protein encoded by this gene is a subunit of the receptor for IL-23. This protein pairs with the receptor molecule IL-12Rβ1 (IL12RB1), together forming the IL-23 receptor complex, and both are required for IL-23 signaling. This protein associates constitutively with Janus kinase 2 (JAK2), and also binds to transcription activator STAT3 in a ligand-dependent manner.

Clinical significance

Three variants in the IL23R gene have been shown to protect against Crohn's disease and ulcerative colitis. The effect of IL-23R variations present in the population have been studied with an in vitro expression model system.

Model organisms

Model organisms have been used in the study of IL23R function. A conditional knockout mouse line called Il23r^{tm2a(EUCOMM)Wtsi} was generated at the Wellcome Trust Sanger Institute. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Additional screens performed: - In-depth immunological phenotyping

Il23r knockout mouse phenotype

Characteristic	Phenotype
All data available at.
Peripheral blood leukocytes 6 Weeks	Normal
Insulin	Normal
Haematology 6 Weeks	Normal
Homozygous viability at P14	Normal
Homozygous Fertility	Normal
Body weight	Normal
Neurological assessment	Normal
Grip strength	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology 16 Weeks	Normal
Peripheral blood leukocytes 16 Weeks	Normal
Heart weight	Normal
Salmonella infection	Normal
Cytotoxic T Cell Function	Normal
Spleen Immunophenotyping	Normal
Mesenteric Lymph Node Immunophenotyping	Normal
Bone Marrow Immunophenotyping	Normal
Epidermal Immune Composition	Normal

Further reading

• Parham C, Chirica M, Timans J, Vaisberg E, Travis M, Cheung J, Pflanz S, Zhang R, Singh KP, Vega F, To W, Wagner J, O'Farrell AM, McClanahan T, Zurawski S, Hannum C, Gorman D, Rennick DM, Kastelein RA, de Waal Malefyt R, Moore KW (Jun 2002). "A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R". Journal of Immunology. 168 (11): 5699–708. doi:10.4049/jimmunol.168.11.5699. PMID 12023369.
• Zhang XY, Zhang HJ, Zhang Y, Fu YJ, He J, Zhu LP, Wang SH, Liu L (Jan 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.
• Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, Steinhart AH, Abraham C, Regueiro M, Griffiths A, Dassopoulos T, Bitton A, Yang H, Targan S, Datta LW, Kistner EO, Schumm LP, Lee AT, Gregersen PK, Barmada MM, Rotter JI, Nicolae DL, Cho JH (Dec 2006). "A genome-wide association study identifies IL23R as an inflammatory bowel disease gene". Science. 314 (5804): 1461–3. doi:10.1126/science.1135245. PMC 4410764. PMID 17068223.
• Cargill M, Schrodi SJ, Chang M, Garcia VE, Brandon R, Callis KP, Matsunami N, Ardlie KG, Civello D, Catanese JJ, Leong DU, Panko JM, McAllister LB, Hansen CB, Papenfuss J, Prescott SM, White TJ, Leppert MF, Krueger GG, Begovich AB (Feb 2007). "A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes". American Journal of Human Genetics. 80 (2): 273–90. doi:10.1086/511051. PMC 1785338. PMID 17236132.
• Dubinsky MC, Wang D, Picornell Y, Wrobel I, Katzir L, Quiros A, Dutridge D, Wahbeh G, Silber G, Bahar R, Mengesha E, Targan SR, Taylor KD, Rotter JI (May 2007). "IL-23 receptor (IL-23R) gene protects against pediatric Crohn's disease". Inflammatory Bowel Diseases. 13 (5): 511–5. doi:10.1002/ibd.20126. PMC 2169293. PMID 17309073.
• Tremelling M, Cummings F, Fisher SA, Mansfield J, Gwilliam R, Keniry A, Nimmo ER, Drummond H, Onnie CM, Prescott NJ, Sanderson J, Bredin F, Berzuini C, Forbes A, Lewis CM, Cardon L, Deloukas P, Jewell D, Mathew CG, Parkes M, Satsangi J (May 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, Beckly J, Cooney R, Hancock L, Pathan S, Guo C, Cardon LR, Jewell DP (Sep 2007). "Contribution of the novel inflammatory bowel disease gene IL23R to disease susceptibility and phenotype". Inflammatory Bowel Diseases. 13 (9): 1063–8. doi:10.1002/ibd.20180. PMID 17508420.
• Yamazaki K, Onouchi Y, Takazoe M, Kubo M, Nakamura Y, Hata A (2007). "Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients". Journal of Human Genetics. 52 (7): 575–83. doi:10.1007/s10038-007-0156-z. PMID 17534574.
• Baldassano RN, Bradfield JP, Monos DS, Kim CE, Glessner JT, Casalunovo T, Frackelton EC, Otieno FG, Kanterakis S, Shaner JL, Smith RM, Eckert AW, Robinson LJ, Onyiah CC, Abrams DJ, Chiavacci RM, Skraban R, Devoto M, Grant SF, Hakonarson H (Aug 2007). "Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease". Clinical Gastroenterology and Hepatology. 5 (8): 972–6. doi:10.1016/j.cgh.2007.04.024. PMC 4287202. PMID 17618837.
• Sánchez E, Rueda B, Callejas JL, Sabio JM, Ortego-Centeno N, Jimenez-Alonso J, López-Nevot MA, Martín J (Sep 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, García A, Martín J (Aug 2007). "Investigation of the IL23R gene in a Spanish rheumatoid arthritis cohort". Human Immunology. 68 (8): 681–4. doi:10.1016/j.humimm.2007.05.008. PMID 17678723.
• Oliver J, Rueda B, López-Nevot MA, Gómez-García M, Martín J (Aug 2007). "Replication of an association between IL23R gene polymorphism with inflammatory bowel disease". Clinical Gastroenterology and Hepatology. 5 (8): 977–81, 981.e1–2. doi:10.1016/j.cgh.2007.05.002. PMID 17678845.
• Raelson JV, Little RD, Ruether A, Fournier H, Paquin B, Van Eerdewegh P, Bradley WE, Croteau P, Nguyen-Huu Q, Segal J, Debrus S, Allard R, Rosenstiel P, Franke A, Jacobs G, Nikolaus S, Vidal JM, Szego P, Laplante N, Clark HF, Paulussen RJ, Hooper JW, Keith TP, Belouchi A, Schreiber S (Sep 2007). "Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci". Proceedings of the National Academy of Sciences of the United States of America. 104 (37): 14747–52. doi:10.1073/pnas.0706645104. PMC 1965486. PMID 17804789.
• Borgiani P, Perricone C, Ciccacci C, Romano S, Novelli G, Biancone L, Petruzziello C, Pallone F (Sep 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.