PTPN22 Back

protein tyrosine phosphatase, non-receptor type 22 (lymphoid)

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NCBI Description of PTPN22
This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described.

Community Annotation of PTPN22 Add / Edit PTPN22: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

PTPN22 is highly significantly mutated in
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PTPN22 is significantly mutated in
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PTPN22 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for PTPN22