PTPN22
Protein Tyrosine Phosphatase Non-Receptor Type 22
Gene Number: 26191
Location: 1p13.2
Key Functions: Immune-cell signaling, T-cell regulation, immune tolerance
PTPN22 produces an enzyme that helps regulate signals inside immune cells. It influences how T cells respond to stimulation and helps control immune responses against the body’s own tissues [R].
This report examines rs2476601 (R620W) and rs33996649 (R263Q), two protein-changing variants studied for their effects on autoimmune disease susceptibility. Their effects differ: rs2476601 is linked to increased rheumatoid arthritis susceptibility, while rs33996649 has been linked to lower susceptibility [R, R].
Explore your genotypes below, or visit CTLA4 and immune regulation and STAT4 and autoimmune susceptibility to learn about related immune pathways.
SNP ID | Your Genotype | Alt Allele | Interpretation |
|---|---|---|---|
rs2476601 | Analyze your DNA to see your genotype | A | Analyze your DNA to see a personalized result. |
rs33996649 | Analyze your DNA to see your genotype | T | Analyze your DNA to see a personalized result. |
rs2476601 — R620W and Autoimmune Susceptibility
GG – Normal susceptibility for autoimmune diseases (R).
AG – Increased susceptibility for autoimmune disorders (R).
AA – Increased susceptibility for autoimmune disorders (R).
The A allele is linked to increased susceptibility to rheumatoid arthritis, type 1 diabetes, systemic lupus erythematosus, Graves’ disease and juvenile idiopathic arthritis. The size of the effect differs between conditions [R].
Functional effect: The A allele produces the R620W change, replacing arginine with tryptophan at position 620. This disrupts interaction with CSK, another protein involved in controlling immune-cell activation [R].
rs33996649 — R263Q and Lower Autoimmune Susceptibility
CC – No protective variant for autoimmune diseases found for this marker.
CT – One T allele. Carries the R263Q variant linked to lower rheumatoid arthritis susceptibility [R].
TT – Two T alleles. Carries two copies of R263Q. There is insufficient evidence to give a reliable TT-specific risk estimate [R].
A study of 5,579 people with rheumatoid arthritis and 5,392 controls, including participants from Norway, found approximately 20% lower rheumatoid arthritis odds for the T allele [R].
Functional effect: The T allele produces the R263Q change, replacing arginine with glutamine at position 263 and reducing the enzyme’s phosphatase activity. This variant has also been linked to lower susceptibility to systemic lupus erythematosus [R].
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