PTPN22

protein tyrosine phosphatase, non-receptor type 22

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.

Genetics Home Reference provides information about autoimmune Addison disease.

Genetics Home Reference provides information about Graves disease.

Genetics Home Reference provides information about idiopathic inflammatory myopathy.

Genetics Home Reference provides information about juvenile idiopathic arthritis.

Genetics Home Reference provides information about rheumatoid arthritis.

Genetics Home Reference provides information about systemic lupus erythematosus.

Genetics Home Reference provides information about systemic scleroderma.

Genetics Home Reference provides information about type 1 diabetes.

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.

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.

Cytogenetic Location: 1p13.2, which is the short (p) arm of chromosome 1 at position 13.2

Molecular Location: base pairs 113,813,811 to 113,871,761 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p13.2, which is the short (p) arm of chromosome 1 at position 13.2
  • hematopoietic cell protein-tyrosine phosphatase 70Z-PEP
  • lymphoid phosphatase
  • lymphoid-specific protein tyrosine phosphatase
  • LYP
  • LYP1
  • LYP2
  • PEP
  • PEST-domain phosphatase
  • protein tyrosine phosphatase, non-receptor type 8
  • protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
  • PTN22_HUMAN
  • PTPN8
  • tyrosine-protein phosphatase non-receptor type 22