The PTPN22 gene provides instructions for making a protein that belongs to the PTP (protein tyrosine phosphatases) family. PTP proteins play a role in regulating a process called signal transduction. In signal transduction, the protein relays signals from outside the cell to the cell nucleus. These signals instruct the cell to grow and divide or to mature and take on specialized functions.
The PTPN22 protein is involved in signaling that helps control the activity of immune system cells called T cells. T cells identify foreign substances and defend the body against infection.
Health Conditions Related to Genetic Changes
Studies have associated the R620W variation in the PTPN22 gene with an increased risk of vitiligo, an autoimmune condition that results in patchy changes in skin coloring (pigmentation).
As with other autoimmune disorders, this variation likely affects the activity of the PTPN22 protein, making it more difficult for the body to control the immune system and prevent it from attacking its own tissues. While the pigment loss associated with vitiligo results from the immune system attacking pigment-producing cells (melanocytes) in the skin, it is unclear what specific circumstances trigger the immune system to do so. The condition probably results from a combination of genetic and environmental factors, most of which have not been identified.More About This Health Condition
MedlinePlus Genetics provides information about Alopecia areataMore About This Health Condition
Autoimmune Addison disease
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Idiopathic inflammatory myopathy
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Juvenile idiopathic arthritis
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Systemic lupus erythematosus
MedlinePlus Genetics provides information about Systemic lupus erythematosusMore About This Health Condition
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Type 1 diabetes
MedlinePlus Genetics provides information about Type 1 diabetesMore About This Health Condition
Studies have associated a variation in the PTPN22 gene with an increased risk of several autoimmune disorders. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. These disorders include type 1 diabetes, rheumatoid arthritis, autoimmune thyroid disease, and systemic lupus erythematosus.
The PTPN22 gene variation associated with autoimmune disorders changes the protein building block (amino acid) arginine to the amino acid tryptophan at position 620 in the PTPN22 protein sequence, written as Arg620Trp or R620W. This variation likely affects the activity of the PTPN22 protein, making it more difficult for the body to control inflammation and prevent the immune system from attacking its own tissues.
Other Names for This Gene
- hematopoietic cell protein-tyrosine phosphatase 70Z-PEP
- lymphoid phosphatase
- lymphoid-specific protein tyrosine phosphatase
- PEST-domain phosphatase
- protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
- protein tyrosine phosphatase, non-receptor type 8
- tyrosine-protein phosphatase non-receptor type 22
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
- Arechiga AF, Habib T, He Y, Zhang X, Zhang ZY, Funk A, Buckner JH. Cutting edge: the PTPN22 allelic variant associated with autoimmunity impairs B cell signaling. J Immunol. 2009 Mar 15;182(6):3343-7. doi: 10.4049/jimmunol.0713370. Citation on PubMed or Free article on PubMed Central
- LaBerge GS, Bennett DC, Fain PR, Spritz RA. PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not. J Invest Dermatol. 2008 Jul;128(7):1757-62. doi: 10.1038/sj.jid.5701233. Epub 2008 Jan 17. Citation on PubMed
- Laberge GS, Birlea SA, Fain PR, Spritz RA. The PTPN22-1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the Romanian population. Pigment Cell Melanoma Res. 2008 Apr;21(2):206-8. doi: 10.1111/j.1755-148X.2008.00443.x. Citation on PubMed
- Lee YH, Rho YH, Choi SJ, Ji JD, Song GG, Nath SK, Harley JB. The PTPN22 C1858T functional polymorphism and autoimmune diseases--a meta-analysis. Rheumatology (Oxford). 2007 Jan;46(1):49-56. doi: 10.1093/rheumatology/kel170. Epub 2006 Jun 7. Citation on PubMed
- Pradhan V, Borse V, Ghosh K. PTPN22 gene polymorphisms in autoimmune diseases with special reference to systemic lupus erythematosus disease susceptibility. J Postgrad Med. 2010 Jul-Sep;56(3):239-42. doi: 10.4103/0022-3859.68651. Citation on PubMed
- Spritz RA. The genetics of generalized vitiligo and associated autoimmune diseases. Pigment Cell Res. 2007 Aug;20(4):271-8. doi: 10.1111/j.1600-0749.2007.00384.x. Citation on PubMed
- Vang T, Miletic AV, Bottini N, Mustelin T. Protein tyrosine phosphatase PTPN22 in human autoimmunity. Autoimmunity. 2007 Sep;40(6):453-61. doi: 10.1080/08916930701464897. Citation on PubMed