PTPN22
Protein tyrosine phosphatase, non-receptor type 22
Gene Number: 26191
Location: 1p13.2
Key Functions: T-cell receptor signaling regulation, immune tolerance, autoimmunity susceptibility, inflammatory response control
PTPN22 encodes protein tyrosine phosphatase non-receptor type 22, an intracellular phosphatase that downregulates T-cell receptor signaling to maintain immune homeostasis. It fine-tunes immune responses and plays a key role in preventing inappropriate immune activation.
Genetic variants in PTPN22 are strongly linked to increased risk of autoimmune diseases, including type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus, due to disrupted immune tolerance and heightened inflammatory activity.
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs2476601 | No matching variant or no valid DNA data | G | No interpretation available |
rs33996649 | No matching variant or no valid DNA data | T | No interpretation available |
rs2476601
GG – Normal risk for autoimmune diseases (R).
AG – ~2× higher risk of rheumatoid arthritis and other autoimmune disorders (R).
AA – ~3.2× higher risk of rheumatoid arthritis and multiple autoimmune diseases (R).
Functional effect: The A allele (1858T, R620W) is a gain-of-function variant that disrupts TCR signaling by enhancing phosphatase activity, increasing autoimmunity risk.
rs33996649
CC – Normal risk for autoimmune diseases (R).
CT – Slightly lower risk for several autoimmune conditions, including Crohn’s disease, ulcerative colitis, and rheumatoid arthritis (R).
TT – Likely lower risk, though evidence is limited (R).
Functional effect: The A allele (R263Q) is a loss-of-function change impairing phosphatase activity in the catalytic domain, and may modestly reduce autoimmune susceptibility.
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