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Genetics Home Reference: your guide to understanding genetic conditions
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FOXP3

Reviewed March 2013

What is the official name of the FOXP3 gene?

The official name of this gene is “forkhead box P3.”

FOXP3 is the gene's official symbol. The FOXP3 gene is also known by other names, listed below.

What is the normal function of the FOXP3 gene?

The FOXP3 gene provides instructions for producing the forkhead box P3 (FOXP3) protein. The FOXP3 protein attaches (binds) to specific regions of DNA and helps control the activity of genes that are involved in regulating the immune system. On the basis of this role, the FOXP3 protein is called a transcription factor. This protein is essential for the production and normal function of certain immune cells called regulatory T cells, which play an important role in preventing autoimmunity. Autoimmunity occurs when the body attacks its own tissues and organs by mistake. The FOXP3 protein is found primarily in an immune system gland called the thymus, where regulatory T cells are produced.

Does the FOXP3 gene share characteristics with other genes?

The FOXP3 gene belongs to a family of genes called FOX (forkhead box genes).

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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the FOXP3 gene related to health conditions?

immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome - caused by mutations in the FOXP3 gene

At least 21 mutations in the FOXP3 gene have been found to cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. Most mutations change one protein building block (amino acid) in the region of the FOXP3 protein that binds to DNA or lead to the production of an abnormally short, nonfunctional protein. Mutations in the FOXP3 gene result in reduced numbers or a complete absence of regulatory T cells. Without the proper number of regulatory T cells, the body cannot control immune responses. Normal body tissues and organs are attacked, causing the multiple autoimmune disorders present in people with IPEX syndrome.

Where is the FOXP3 gene located?

Cytogenetic Location: Xp11.23

Molecular Location on the X chromosome: base pairs 49,106,896 to 49,121,287

The FOXP3 gene is located on the short (p) arm of the X chromosome at position 11.23.

The FOXP3 gene is located on the short (p) arm of the X chromosome at position 11.23.

More precisely, the FOXP3 gene is located from base pair 49,106,896 to base pair 49,121,287 on the X chromosome.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about FOXP3?

You and your healthcare professional may find the following resources about FOXP3 helpful.

  • Educational resources - Information pages
    Immunobiology (fifth edition, 2001): Autoimmune responses are directed against self antigens (http://www.ncbi.nlm.nih.gov/books/NBK27155/)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ipex)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for FOXP3 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=50943%5Bgeneid%5D)

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

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((FOXP3%5BTIAB%5D)%20OR%20(forkhead%20box%20P3%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20360%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/300292)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_FOXP3.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/50943)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=50943)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=6106)

What other names do people use for the FOXP3 gene or gene products?

  • AIID
  • DIETER
  • FOXP3_HUMAN
  • immune dysregulation, polyendocrinopathy, enteropathy, X-linked
  • immunodeficiency, polyendocrinopathy, enteropathy, X-linked
  • IPEX
  • JM2
  • MGC141961
  • MGC141963
  • PIDX
  • scurfin
  • XPID

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding FOXP3?

amino acid ; autoimmune ; autoimmunity ; diabetes ; DNA ; gene ; immune system ; immunodeficiency ; protein ; syndrome ; thymus ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/50943)
  • Fuchizawa T, Adachi Y, Ito Y, Higashiyama H, Kanegane H, Futatani T, Kobayashi I, Kamachi Y, Sakamoto T, Tsuge I, Tanaka H, Banham AH, Ochs HD, Miyawaki T. Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations. Clin Immunol. 2007 Dec;125(3):237-46. Epub 2007 Oct 3. (http://www.ncbi.nlm.nih.gov/pubmed/17916446?dopt=Abstract)
  • Gene Review: IPEX Syndrome (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ipex)
  • Nik Tavakoli N, Hambly BD, Sullivan DR, Bao S. Forkhead box protein 3: essential immune regulatory role. Int J Biochem Cell Biol. 2008;40(11):2369-73. Epub 2007 Oct 10. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18037337?dopt=Abstract)
  • Torgerson TR, Ochs HD. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells. J Allergy Clin Immunol. 2007 Oct;120(4):744-50; quiz 751-2. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17931557?dopt=Abstract)
  • van der Vliet HJ, Nieuwenhuis EE. IPEX as a result of mutations in FOXP3. Clin Dev Immunol. 2007;2007:89017. doi: 10.1155/2007/89017. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18317533?dopt=Abstract)
  • Wildin RS, Freitas A. IPEX and FOXP3: clinical and research perspectives. J Autoimmun. 2005;25 Suppl:56-62. Epub 2005 Oct 21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16243487?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: March 2013
Published: May 13, 2013