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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
  • 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