PTPN22 (protein tyrosine phosphatase non-receptor type 22)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 26191
Gene name Protein tyrosine phosphatase non-receptor type 22
Gene symbol PTPN22
Synonyms (NCBI Gene)
LYPLYP1LYP2PEPPTPN22.5PTPN22.6PTPN8
Chromosome 1
Chromosome location 1p13.2
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 i
miRNA miRNA information provided by mirtarbase database.
30
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (30)
miRTarBase ID miRNA Experiments Reference
MIRT006484 hsa-miR-181a-5p Luciferase reporter assayWestern blot 17382377
MIRT006484 hsa-miR-181a-5p Luciferase reporter assayWestern blot 17382377
MIRT006484 hsa-miR-181a-5p Luciferase reporter assayWestern blot 17382377
MIRT006484 hsa-miR-181a-5p Luciferase reporter assayWestern blot 17382377
MIRT006484 hsa-miR-181a-5p Luciferase reporter assayWestern blot 17382377
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
57
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (57)
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004725 Function Protein tyrosine phosphatase activity IBA
GO:0004725 Function Protein tyrosine phosphatase activity IDA 10068674, 16461343, 18056643, 27043286
GO:0004725 Function Protein tyrosine phosphatase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600716 9652 ENSG00000134242
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2R2
Protein name Tyrosine-protein phosphatase non-receptor type 22 (EC 3.1.3.48) (Hematopoietic cell protein-tyrosine phosphatase 70Z-PEP) (Lymphoid phosphatase) (LyP) (PEST-domain phosphatase) (PEP)
Protein function Acts as a negative regulator of T-cell receptor (TCR) signaling by direct dephosphorylation of the Src family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other key signaling molecules (PubMed:16461343, PubM
PDB 2P6X , 2QCJ , 2QCT , 3BRH , 3H2X , 3OLR , 3OMH , 4J51 , 7AAM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00102 Y_phosphatase 54 → 288 Protein-tyrosine phosphatase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in bone marrow, B and T-cells, PBMCs, natural killer cells, monocytes, dendritic cells and neutrophils (PubMed:15208781). Both isoform 1 and 4 are predominantly expressed in lymphoid tissues and cells. Isoform 1 is expressed
Sequence 
MDQREILQKFLDEAQSKKITKEEFANEFLKLKRQSTKYKADKTYPTTVAEKPKNIKKNRY
KDILPYDYSRVELSLITSDEDSSYINANFIKGVYGPKAYIATQGPLSTTLLDFWRMIWEY
SVLIIVMACMEYEMGKKKCERYWAEPGEMQLEFGPFSVSCEAEKRKSDYIIRTLKVKFNS
ETRTIYQFHYKNWPDHDVPSSIDPILELIWDVRCYQEDDSVPICIHCSAGCGRTGVICAI
DYTWMLLKDGIIPENFSVFSLIREMRTQRPSLVQTQEQYELVYNAVLELFKRQMDVIRDK
HSGTESQAKHCIPEKNHTLQADSYSPNLPKSTTKAAKMMNQQRTKMEIKESSSFDFRTSE
ISAKEELVLHPAKSSTSFDFLELNYSFDKNADTTMKWQTKAFPIVGEPLQKHQSLDLGSL
LFEGCSNSKPVNAAGRYFNSKVPITRTKSTPFELIQQRETKEVDSKENFSYLESQPHDSC
FVEMQAQKVMHVSSAELNYSLPYDSKHQIRNASNVKHHDSSALGVYSYIPLVENPYFSSW
PPSGTSSKMSLDLPEKQDGTVFPSSLLPTSSTSLFSYYNSHDSLSLNSPTNISSLLNQES
AVLATAPRIDDEIPPPLPVRTPESFIVVEEAGEFSPNVPKSLSSAVKVKIGTSLEWGGTS
EPKKFDDSVILRPSKSVKLRSPKSELHQDRSSPPPPLPERTLESFFLADEDCMQAQSIET
YSTSYPDTMENSTSSKQTLKTPGKSFTRSKSLKILRNMKKSICNSCPPNKPAESVQSNNS
SSFLNFGFANRFSKPKGPRNPPPTWNI
Sequence length 807
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Phosphorylation of CD3 and TCR zeta chains
Translocation of ZAP-70 to Immunological synapse
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (22)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs72650672 RCV005906804
chronic fatigue syndrome with infection-triggered onset Benign rs2476601 RCV001254797
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs56048322 RCV005893657
Colon adenocarcinoma Conflicting classifications of pathogenicity rs56048322 RCV005893653
Show/Hide Text Mining Associations (148)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 25814225
Addison Disease Associate 24614117, 25978633
Adenocarcinoma of Lung Associate 38182570
Adenoma Islet Cell Associate 19188433, 22315323, 31740441
amyloidosis IX Associate 26405069
Anemia Aplastic Associate 17034023
Anemia Pernicious Associate 34145262
Angina Stable Associate 25814225
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis Associate 19951419, 22237046, 22880107, 33408719
Antiphospholipid Syndrome Associate 24985973