PTPN22

Summary: 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. [provided by RefSeq, Mar 2009].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
Nameprotein tyrosine phosphatase, non-receptor type 22
OMIM IDMIM:600716
Ensembl IDEnsembl:ENSG00000134242
HGNC IDHGNC:HGNC:9652
PHARMGKB IDPA33995
Map Location1p13.2

GO terms in PTPN22


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Term Type
Evidence Type
GO Term ID
GO Des.
BP IDA GO:0006470 protein dephosphorylation
BP TAS GO:0006470 protein dephosphorylation
BP IEA GO:0006914 autophagy
BP IMP GO:0010507 negative regulation of autophagy
BP IMP GO:0010628 positive regulation of gene expression
BP IMP GO:0010629 negative regulation of gene expression
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Gene expression in normal tissue: PTPN22

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 9undefinedtissue: undefined cancer: SMALL_CELL_CARCINOMA model num: 5LUNtissue: LUN cancer: LUNG model num: 0LUNGtissue: LUNG cancer: undefined model num: 6BOWEtissue: BOWE cancer: BOWEL model num: 0BOWELtissue: BOWEL cancer: undefined model num: 4

Gene-drug pathway distribution

undefined9Stilbenoid, diarylheptanoid and gingerol biosynthesis1Protein stability and degradation1RTK signaling1

Pathways in PTPN22


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Database
Pathway ID
Pathway Des.
reactome R-HSA-1280218 Adaptive Immune System
reactome R-HSA-168256 Immune System
reactome R-HSA-202403 TCR signaling
reactome R-HSA-202427 Phosphorylation of CD3 and TCR zeta chains
reactome R-HSA-202430 Translocation of ZAP-70 to Immunological synapse
netpath Pathway_TCR TCR
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD280 CYTOCHALASIN B 1
iGMDRD679 Bistramide A 2
iGMDRD414 MST-312 2
iGMDRD446 LY 2183240 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in PTPN22

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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