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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed February 2009

What is the official name of the IL23R gene?

The official name of this gene is “interleukin 23 receptor.”

IL23R is the gene's official symbol. The IL23R gene is also known by other names, listed below.

What is the normal function of the IL23R gene?

The IL23R gene provides instructions for making a protein called the interleukin 23 receptor. This protein is embedded in the cell membrane of several types of immune system cells, including T cells, natural killer (NK) cells, monocytes, and dendritic cells. These cells identify foreign substances and defend the body against infection and disease.

At the cell surface, the interleukin 23 receptor interacts with a protein called interleukin 23. These two proteins fit together like a lock and its key. Interleukin 23 is a cytokine, which is a type of protein that regulates the activity of immune system cells. When interleukin 23 binds to its receptor, it triggers a series of chemical signals inside the cell. These signals promote inflammation and help coordinate the immune system's response to foreign invaders such as bacteria and viruses.

Does the IL23R gene share characteristics with other genes?

The IL23R gene belongs to a family of genes called IL (interleukins and interleukin receptors).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? ( in the Handbook.

How are changes in the IL23R gene related to health conditions?

ankylosing spondylitis - associated with the IL23R gene

Several variations (polymorphisms) in the IL23R gene have been found to influence the risk of ankylosing spondylitis. One of these variations appears to reduce the likelihood of developing this disorder. This genetic change alters a single protein building block (amino acid) in the interleukin 23 receptor, replacing the amino acid arginine with the amino acid glutamine at protein position 381 (written as Arg381Gln). Other IL23R variations appear to increase the risk of developing ankylosing spondylitis. It is not clear how these changes are related to a person's risk of developing this disorder, but studies suggest that the effects of IL23R variations are likely related to the interleukin 23 receptor's role in inflammation. Other genetic and environmental factors, many of which are unknown, also affect the chance of developing ankylosing spondylitis.

Crohn disease - associated with the IL23R gene

Several variations in or near the IL23R gene have been found to influence the risk of developing Crohn disease. These associations have been found primarily in white populations. For example, Arg381Gln, which is a protective factor for ankylosing spondylitis, also appears to reduce the risk of developing Crohn disease. Although it is unclear how this change protects against Crohn disease, researchers believe that the receptor's role in triggering inflammation in the intestinal walls may underlie its connection with this disorder.

other disorders - associated with the IL23R gene

Variations in the IL23R gene have also been associated with a skin disorder called psoriasis. People with this chronic inflammatory condition have patches of red, irritated skin that are often covered by flaky white scales. Psoriasis likely results from a malfunction of the immune system in which the body's immune response turns against itself, attacking healthy skin cells by mistake.

Each of the known IL23R variations changes a single amino acid in the interleukin 23 receptor. One of these variations, Arg381Gln, appears to reduce the risk of developing psoriasis. (This variation has also been shown to protect against ankylosing spondylitis and Crohn disease, which are other disorders associated with chronic inflammation.) Other IL23R variations may increase the risk of developing psoriasis. Researchers suggest that changes in the IL23R gene may contribute to general problems with regulation of the immune system, which may help explain why these variations are related to several different disorders characterized by immune system dysfunction.

Where is the IL23R gene located?

Cytogenetic Location: 1p31.3

Molecular Location on chromosome 1: base pairs 67,138,640 to 67,259,979

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The IL23R gene is located on the short (p) arm of chromosome 1 at position 31.3.

The IL23R gene is located on the short (p) arm of chromosome 1 at position 31.3.

More precisely, the IL23R gene is located from base pair 67,138,640 to base pair 67,259,979 on chromosome 1.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about IL23R?

You and your healthcare professional may find the following resources about IL23R helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the IL23R gene or gene products?

  • IL-23R
  • interleukin-23 receptor

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding IL23R?

amino acid ; arginine ; arthritis ; autoimmune ; bacteria ; cell ; cell membrane ; chronic ; colitis ; cytokine ; gene ; glutamine ; immune response ; immune system ; infection ; inflammation ; protein ; psoriasis ; receptor ; spondylitis

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • Brionez TF, Reveille JD. The contribution of genes outside the major histocompatibility complex to susceptibility to ankylosing spondylitis. Curr Opin Rheumatol. 2008 Jul;20(4):384-91. doi: 10.1097/BOR.0b013e32830460fe. Review. (
  • Brown MA. Breakthroughs in genetic studies of ankylosing spondylitis. Rheumatology (Oxford). 2008 Feb;47(2):132-7. Epub 2007 Nov 22. Review. (
  • Capon F, Di Meglio P, Szaub J, Prescott NJ, Dunster C, Baumber L, Timms K, Gutin A, Abkevic V, Burden AD, Lanchbury J, Barker JN, Trembath RC, Nestle FO. Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis. Hum Genet. 2007 Sep;122(2):201-6. Epub 2007 Jun 22. (
  • Capon F, Di Meglio P, Szaub J, Prescott NJ, Dunster C, Baumber L, Timms K, Gutin A, Abkevic V, Burden AD, Lanchbury J, Barker JN, Trembath RC, Nestle FO. Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis. Hum Genet. 2007 Sep;122(2):201-6. Epub 2007 Jun 22. (
  • 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. A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet. 2007 Feb;80(2):273-90. Epub 2006 Dec 21. (
  • 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; Western Regional Research Alliance for Pediatric IBD. IL-23 receptor (IL-23R) gene protects against pediatric Crohn's disease. Inflamm Bowel Dis. 2007 May;13(5):511-5. (
  • 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. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science. 2006 Dec 1;314(5804):1461-3. Epub 2006 Oct 26. (
  • Garcia VE, Chang M, Brandon R, Li Y, Matsunami N, Callis-Duffin KP, Civello D, Rowland CM, Bui N, Catanese JJ, Krueger GG, Leppert MF, Begovich AB, Schrodi SJ. Detailed genetic characterization of the interleukin-23 receptor in psoriasis. Genes Immun. 2008 Sep;9(6):546-55. doi: 10.1038/gene.2008.55. Epub 2008 Jul 24. (
  • NCBI Gene (
  • Rueda B, Orozco G, Raya E, Fernandez-Sueiro JL, Mulero J, Blanco FJ, Vilches C, González-Gay MA, Martin J. The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylosing spondylitis. Ann Rheum Dis. 2008 Oct;67(10):1451-4. doi: 10.1136/ard.2007.080283. Epub 2008 Jan 16. (
  • 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. IL23R variation determines susceptibility but not disease phenotype in inflammatory bowel disease. Gastroenterology. 2007 May;132(5):1657-64. Epub 2007 Feb 24. (
  • Wellcome Trust Case Control Consortium; Australo-Anglo-American Spondylitis Consortium (TASC), Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ, Todd JA, Donnelly P, Barrett JC, Davison D, Easton D, Evans DM, Leung HT, Marchini JL, Morris AP, Spencer CC, Tobin MD, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, Prowse CV, Stevens HE, Taylor NC, Walters GR, Walker NM, Watkins NA, Winzer T, Jones RW, McArdle WL, Ring SM, Strachan DP, Pembrey M, Breen G, St Clair D, Caesar S, Gordon-Smith K, Jones L, Fraser C, Green EK, Grozeva D, Hamshere ML, Holmans PA, Jones IR, Kirov G, Moskivina V, Nikolov I, O'Donovan MC, Owen MJ, Collier DA, Elkin A, Farmer A, Williamson R, McGuffin P, Young AH, Ferrier IN, Ball SG, Balmforth AJ, Barrett JH, Bishop TD, Iles MM, Maqbool A, Yuldasheva N, Hall AS, Braund PS, Dixon RJ, Mangino M, Stevens S, Thompson JR, Bredin F, Tremelling M, Parkes M, Drummond H, Lees CW, Nimmo ER, Satsangi J, Fisher SA, Forbes A, Lewis CM, Onnie CM, Prescott NJ, Sanderson J, Matthew CG, Barbour J, Mohiuddin MK, Todhunter CE, Mansfield JC, Ahmad T, Cummings FR, Jewell DP, Webster J, Brown MJ, Lathrop MG, Connell J, Dominiczak A, Marcano CA, Burke B, Dobson R, Gungadoo J, Lee KL, Munroe PB, Newhouse SJ, Onipinla A, Wallace C, Xue M, Caulfield M, Farrall M, Barton A; Biologics in RA Genetics and Genomics Study Syndicate (BRAGGS) Steering Committee, Bruce IN, Donovan H, Eyre S, Gilbert PD, Hilder SL, Hinks AM, John SL, Potter C, Silman AJ, Symmons DP, Thomson W, Worthington J, Dunger DB, Widmer B, Frayling TM, Freathy RM, Lango H, Perry JR, Shields BM, Weedon MN, Hattersley AT, Hitman GA, Walker M, Elliott KS, Groves CJ, Lindgren CM, Rayner NW, Timpson NJ, Zeggini E, Newport M, Sirugo G, Lyons E, Vannberg F, Hill AV, Bradbury LA, Farrar C, Pointon JJ, Wordsworth P, Brown MA, Franklyn JA, Heward JM, Simmonds MJ, Gough SC, Seal S; Breast Cancer Susceptibility Collaboration (UK), Stratton MR, Rahman N, Ban M, Goris A, Sawcer SJ, Compston A, Conway D, Jallow M, Newport M, Sirugo G, Rockett KA, Bumpstead SJ, Chaney A, Downes K, Ghori MJ, Gwilliam R, Hunt SE, Inouye M, Keniry A, King E, McGinnis R, Potter S, Ravindrarajah R, Whittaker P, Widden C, Withers D, Cardin NJ, Davison D, Ferreira T, Pereira-Gale J, Hallgrimsdo'ttir IB, Howie BN, Su Z, Teo YY, Vukcevic D, Bentley D, Brown MA, Compston A, Farrall M, Hall AS, Hattersley AT, Hill AV, Parkes M, Pembrey M, Stratton MR, Mitchell SL, Newby PR, Brand OJ, Carr-Smith J, Pearce SH, McGinnis R, Keniry A, Deloukas P, Reveille JD, Zhou X, Sims AM, Dowling A, Taylor J, Doan T, Davis JC, Savage L, Ward MM, Learch TL, Weisman MH, Brown M. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet. 2007 Nov;39(11):1329-37. Epub 2007 Oct 21. (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: February 2009
Published: February 1, 2016