Interleukin-23 receptor

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IL23R
Identifiers
AliasesIL23R, interleukin 23 receptor
External IDsOMIM: 607562 MGI: 2181693 HomoloGene: 16930 GeneCards: IL23R
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for IL23R
Genomic location for IL23R
Band1p31.3Start67,138,907 bp[1]
End67,259,979 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_144701

NM_144548

RefSeq (protein)

NP_653302

NP_653131

Location (UCSC)Chr 1: 67.14 – 67.26 MbChr 6: 67.42 – 67.49 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Interleukin-23 receptor is a type I cytokine receptor. IL23R is the name of its human gene.[5]

Function[edit]

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.[5]

Clinical significance[edit]

Three variants in the IL23R gene have been shown to protect against Crohn's disease and ulcerative colitis.[6][7][8] The effect of IL-23R variations present in the population have been studied with an in vitro expression model system.[9]

Model organisms[edit]

Model organisms have been used in the study of IL23R function. A conditional knockout mouse line called Il23rtm2a(EUCOMM)Wtsi was generated at the Wellcome Trust Sanger Institute.[10] Male and female animals underwent a standardized phenotypic screen[11] to determine the effects of deletion.[12][13][14][15] Additional screens performed: - In-depth immunological phenotyping[16]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000162594 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000049093 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: IL23R interleukin 23 receptor".
  6. ^ Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, et al. (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.
  7. ^ Rivas MA, Beaudoin M, Gardet A, Stevens C, Sharma Y, Zhang CK, et al. (Nov 2011). "Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease". Nature Genetics. 43 (11): 1066–73. doi:10.1038/ng.952. PMC 3378381. PMID 21983784.
  8. ^ Momozawa Y, Mni M, Nakamura K, Coppieters W, Almer S, Amininejad L, et al. (Jan 2011). "Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease". Nature Genetics. 43 (1): 43–7. doi:10.1038/ng.733. PMID 21151126.
  9. ^ de Paus RA, van de Wetering D, van Dissel JT, van de Vosse E (September 2008). "IL-23 and IL-12 responses in activated human T cells retrovirally transduced with IL-23 receptor variants". Molecular Immunology. 45 (15): 3889–95. doi:10.1016/j.molimm.2008.06.029. PMID 18675459.
  10. ^ Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
  11. ^ a b "International Mouse Phenotyping Consortium".
  12. ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  13. ^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  14. ^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  15. ^ White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, et al. (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
  16. ^ a b "Infection and Immunity Immunophenotyping (3i) Consortium".

Further reading[edit]