Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5781
Gene name Gene Name - the full gene name approved by the HGNC.
Protein tyrosine phosphatase non-receptor type 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PTPN11
Synonyms (NCBI Gene) Gene synonyms aliases
BPTP3, CFC, JMML, METCDS, NS1, PTP-1D, PTP2C, SH-PTP2, SH-PTP3, SHP2
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT003549 hsa-miR-489-3p Luciferase reporter assay, Western blot 20700123
MIRT003549 hsa-miR-489-3p Luciferase reporter assay, Western blot 20700123
MIRT006482 hsa-miR-181a-5p Luciferase reporter assay, Western blot 17382377
MIRT006482 hsa-miR-181a-5p Luciferase reporter assay, Western blot 17382377
MIRT006482 hsa-miR-181a-5p Luciferase reporter assay, Western blot 17382377
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
176876 9644 ENSG00000179295
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
LEOPARD Syndrome leopard syndrome 1 rs121918461, rs121918469, rs121918456, rs397507541, rs397507505, rs121918455, rs397507549, rs397507546, rs397507531, rs121918457, rs121918470, rs267606990, rs397507542, rs397507527, rs121918462
View all (11 more)
N/A
Metachondromatosis metachondromatosis rs1592852978, rs398122862, rs397507545, rs121918461, rs267606990, rs397507527, rs727503380, rs121918462, rs397507531, rs397516807, rs398122857, rs397507546, rs398122858, rs397507510, rs398122859
View all (9 more)
N/A
Myelomonocytic Leukemia juvenile myelomonocytic leukemia rs121918465 N/A
Noonan Syndrome noonan syndrome, noonan syndrome 1, noonan syndrome 3, Noonan syndrome and Noonan-related syndrome rs397507520, rs397507505, rs397507548, rs397516801, rs267606990, rs121918459, rs397507527, rs397507509, rs121918453, rs397507511, rs397507517, rs121918464, rs397507545, rs121918463, rs397507531
View all (54 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy N/A N/A ClinVar
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Cardiofaciocutaneous syndrome cardio-facio-cutaneous syndrome N/A N/A ClinVar
Cardiofaciocutaneous Syndrome cardiofaciocutaneous syndrome N/A N/A GenCC
Associations from Text Mining Disease 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