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Symbol PTPN11 contributors: mct/pgu - updated : 31-03-2017
HGNC name protein tyrosine phosphatase, non-receptor type 11
HGNC id 9644
corresponding disease(s) NS1 , LEOPS , NGCS , DUP12Q24 , ECDM2
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
in severe congenital neutropenia (defective dephosphorylation of proteins involved in signaling pathways)
tumoral somatic mutation     gain of function
gain of function, in juvenile leukemia, myelomonocytic, rhabdomyosarcoma, myelodysplastic syndrome, acute myeloid leukemia (high phosphatase activity observed in mutations at codons 61, 71, 72, and 76 significantly associated with leukemogenesis) and rarely in solid tumors
tumoral somatic mutation      
in high hyperdiploid childhood acute lymphoblastic leukemia
tumoral germinal mutation     gain of function
activating mutations in 3.4p100 of neuroblastomas
constitutional     --low  
specifically disrupted extracellular signal-regulated kinase (ERK) signaling in Müller cells, leading to STAT3 activation in photoreceptors
Susceptibility to cancer
Variant & Polymorphism other
  • risk for developing cancer is 3.5-fold increased risk compared with that in the general population
  • Candidate gene
  • positive PTPN11 and UGP2 expression correlated with clinicopathological and biological behaviors, and poor-prognosis of gallbladder cancer
  • Therapy target
    might serve as a therapeutic target against breast cancer and other cancers characterized by HER2 overexpression
    mental retardation  
  • selective deletion of Shp2, in striated muscle results in severe dilated cardiomyopathy in mice, leading to heart failure and premature mortality
  • LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development; transgenic Drosophila expressing the two commonest LS mutations in csw under control of UAS/GAL4 system, ubiquitous expression of those LS-causing alleles resulted in a gain-of-function phenotype, which was similar to that of the Noonan transgenic flies
  • decreased Igf1 levels in Ptpn11-mutated mice suggesting an involvement of Shp2 in GH signaling
  • germline mutation Shp2D61G in animal models enhances hematopoietic stem cell activity and induces myeloproliferative disease