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PTPN11 (protein tyrosine phosphatase non-receptor type 11)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5781
Gene nameGene Name - the full gene name approved by the HGNC.
Protein tyrosine phosphatase non-receptor type 11
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PTPN11
SynonymsGene synonyms aliases
BPTP3, CFC, JMML, METCDS, NS1, PTP-1D, PTP2C, SH-PTP2, SH-PTP3, SHP2
ChromosomeChromosome number
12
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.13
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IEA
GO:0000187 Process Activation of MAPK activity IEA
GO:0001784 Function Phosphotyrosine residue binding IMP 12051764
GO:0001784 Function Phosphotyrosine residue binding IPI 11986327, 12051764
GO:0004721 Function Phosphoprotein phosphatase activity IDA 15133037
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 593
Interactions View interactions

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