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. The immune system normally protects the body from foreign invaders, such as bacteria and viruses, by recognizing and attacking these invaders and clearing them from the body.

On the basis of its role in controlling gene activity, 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 these regulatory T cells are produced.

Tests Listed in the Genetic Testing Registry

• Tests of FOXP3

Scientific Articles on PubMed

• PubMed

Catalog of Genes and Diseases from OMIM

• FORKHEAD BOX P3; FOXP3

Gene and Variant Databases

• NCBI Gene
• ClinVar

• Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L, Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Lawitschka A, Azzari C, Ziegler SF, Levings MK, Roncarolo MG. Defective regulatory and effector T cell functions in patients with FOXP3 mutations. J Clin Invest. 2006 Jun;116(6):1713-22. doi: 10.1172/JCI25112. Citation on PubMed or Free article on PubMed Central
• Bin Dhuban K, Piccirillo CA. The immunological and genetic basis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Curr Opin Allergy Clin Immunol. 2015 Dec;15(6):525-32. doi: 10.1097/ACI.0000000000000214. Citation on PubMed
• 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. doi: 10.1016/j.clim.2007.08.004. Epub 2007 Oct 3. Citation on PubMed
• 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. doi: 10.1016/j.biocel.2007.10.004. Epub 2007 Oct 10. Citation on PubMed
• Otsubo K, Kanegane H, Kamachi Y, Kobayashi I, Tsuge I, Imaizumi M, Sasahara Y, Hayakawa A, Nozu K, Iijima K, Ito S, Horikawa R, Nagai Y, Takatsu K, Mori H, Ochs HD, Miyawaki T. Identification of FOXP3-negative regulatory T-like (CD4(+)CD25(+)CD127(low)) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Clin Immunol. 2011 Oct;141(1):111-20. doi: 10.1016/j.clim.2011.06.006. Epub 2011 Jul 12. Citation on PubMed
• Tan QKG, Louie RJ, Sleasman JW. IPEX Syndrome. 2004 Oct 19 [updated 2024 Feb 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK1118/ Citation on PubMed
• 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. doi: 10.1016/j.jaci.2007.08.044. Citation on PubMed