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 (PTPN22), a cytoplasmic enzyme that serves as a negative regulator of T-cell activation and immune signaling. It plays an essential role in maintaining immune homeostasis by fine-tuning the threshold of T-cell receptor (TCR) activation and ensuring self-tolerance. PTPN22 is predominantly expressed in hematopoietic cells, including T lymphocytes, B cells, and macrophages, where it acts as a key intracellular checkpoint to prevent inappropriate or excessive immune activation.
SNP ID | Your Genotype | Alt Allele | Interpretation |
|---|---|---|---|
rs2476601 | Analyze your DNA to see your genotype | G | 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
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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