Gene Gene information from NCBI Gene database.
Entrez ID 5781
Gene name Protein tyrosine phosphatase non-receptor type 11
Gene symbol PTPN11
Synonyms (NCBI Gene)
BPTP3CFCJMMLMETCDSNS1PTP-1DPTP2CSH-PTP2SH-PTP3SHP2
Chromosome 12
Chromosome location 12q24.13
Summary The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic tran
SNPs SNP information provided by dbSNP.
107
SNP ID Visualize variation Clinical significance Consequence
rs28933386 A>G Pathogenic Missense variant, coding sequence variant
rs80338836 GTG>- Pathogenic Coding sequence variant, inframe deletion
rs121918453 G>A,C,T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs121918454 C>A,G,T Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs121918455 A>C,G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1212
miRTarBase ID miRNA Experiments Reference
MIRT003549 hsa-miR-489-3p Luciferase reporter assayWestern blot 20700123
MIRT003549 hsa-miR-489-3p Luciferase reporter assayWestern blot 20700123
MIRT006482 hsa-miR-181a-5p Luciferase reporter assayWestern blot 17382377
MIRT006482 hsa-miR-181a-5p Luciferase reporter assayWestern blot 17382377
MIRT006482 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.
118
GO ID Ontology Definition Evidence Reference
GO:0000077 Process DNA damage checkpoint signaling IEA
GO:0001784 Function Phosphotyrosine residue binding IPI 11986327
GO:0002283 Process Neutrophil activation involved in immune response ISS
GO:0004721 Function Phosphoprotein phosphatase activity IDA 15133037
GO:0004721 Function Phosphoprotein phosphatase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176876 9644 ENSG00000179295
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q06124
Protein name Tyrosine-protein phosphatase non-receptor type 11 (EC 3.1.3.48) (Protein-tyrosine phosphatase 1D) (PTP-1D) (Protein-tyrosine phosphatase 2C) (PTP-2C) (SH-PTP2) (SHP-2) (Shp2) (SH-PTP3)
Protein function Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus (PubMed:10655584, PubMed:14739280, PubMed:18559669, PubMed:18829466, PubMed:26742426, Pub
PDB 2SHP , 3B7O , 3MOW , 3O5X , 3TKZ , 3TL0 , 3ZM0 , 3ZM1 , 3ZM2 , 3ZM3 , 4DGP , 4DGX , 4GWF , 4H1O , 4H34 , 4JE4 , 4JEG , 4JMG , 4NWF , 4NWG , 4OHD , 4OHE , 4OHH , 4OHI , 4OHL , 4PVG , 4QSY , 4RDD , 5BK8 , 5DF6 , 5EHP , 5EHR , 5I6V , 5IBM , 5IBS , 5X7B , 5X94 , 5XZR , 6ATD , 6BMR , 6BMU , 6BMV , 6BMW , 6BMX , 6BMY , 6BN5 , 6CMP , 6CMQ , 6CMR , 6CMS , 6CRF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00017 SH2 6 81 SH2 domain Domain
PF00017 SH2 112 197 SH2 domain Domain
PF00102 Y_phosphatase 273 524 Protein-tyrosine phosphatase Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest levels in heart, brain, and skeletal muscle. {ECO:0000269|PubMed:1280823, ECO:0000269|PubMed:7681589, ECO:0000269|PubMed:8216283}.
Sequence
Sequence length 593
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2498
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal bleeding Pathogenic rs28933386 RCV001270562
Abnormal cardiovascular system morphology Pathogenic rs121918461 RCV000626829
Abnormal facial shape Likely pathogenic; Pathogenic rs397507540, rs397507542 RCV001730478
RCV000626828
Astrocytic tumor Likely pathogenic; Pathogenic rs397507539 RCV003764999
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute megakaryoblastic leukemia in down syndrome Uncertain significance rs121918467 RCV001293768
Acute myeloid leukemia Benign rs12301915 RCV005888886
Arrhythmogenic right ventricular cardiomyopathy Conflicting classifications of pathogenicity rs1420924484 RCV000852688
Atypical teratoid rhabdoid tumor other rs397507546 RCV006253717
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Achondroplasia Associate 30355600
Acrocephalosyndactylia Associate 23726368
Adenocarcinoma Associate 26317919
Adenocarcinoma of Lung Associate 26066407, 29483824, 38280930
Adenocarcinoma of Lung Inhibit 35802774
Anodontia Associate 33167018
Arthritis Rheumatoid Associate 23335101
Ascites Associate 23321623
Astrocytoma Associate 32859279, 35778969
Atrial Fibrillation Associate 37263975