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IL23R

IL23R

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.

Read more about gene names and symbols on the About page.

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 Caucasian (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.

Genetics Home Reference provides information about psoriatic arthritis, which is also associated with changes in the IL23R gene.

Where is the IL23R gene located?

Cytogenetic Location: 1p31.3

Molecular Location on chromosome 1: base pairs 67,138,906 to 67,259,978

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 67,138,906 to base pair 67,259,978 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
  • IL23R_HUMAN
  • interleukin-23 receptor

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding IL23R?

amino acid ; arginine ; arthritis ; autoimmune ; bacteria ; cell ; cell membrane ; chronic ; 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.

See also Understanding Medical Terminology.

References (12 links)

 

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: July 28, 2014