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Reviewed January 2015
What is the official name of the PTPN22 gene?
The official name of this gene is “protein tyrosine phosphatase, non-receptor type 22 (lymphoid).”
PTPN22 is the gene's official symbol. The PTPN22 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 PTPN22 gene?
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.
Does the PTPN22 gene share characteristics with other genes?
The PTPN22 gene belongs to a family of genes called PTP (protein tyrosine phosphatases).
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 PTPN22 gene related to health conditions?
Genetics Home Reference provides additional information about these conditions associated with changes in the PTPN22 gene:
Where is the PTPN22 gene located?
Cytogenetic Location: 1p13.2
Molecular Location on chromosome 1: base pairs 113,813,810 to 113,871,756
The PTPN22 gene is located on the short (p) arm of chromosome 1 at position 13.2.
More precisely, the PTPN22 gene is located from base pair 113,813,810 to base pair 113,871,756 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PTPN22?
You and your healthcare professional may find the following resources about PTPN22 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 PTPN22 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 PTPN22?
amino acid ; arginine ; arthritis ; autoimmune ; cell ; cell nucleus ; diabetes ; domain ; gene ; hematopoietic ; idiopathic ; immune system ; infection ; inflammation ; juvenile ; lymphoid ; melanocytes ; nucleus ; phosphatase ; pigment ; pigmentation ; protein ; protein sequence ; receptor ; signal transduction ; thyroid ; transduction ; tryptophan ; tyrosine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 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.