PTPN11

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 transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]

protein tyrosine phosphatase, non-receptor type 11

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:18559669, PubMed:18829466, PubMed:26742426, PubMed:28074573).
Positively regulates MAPK signal transduction pathway (PubMed:28074573).
Dephosphorylates GAB1, ARHGAP35 and EGFR (PubMed:28074573).
Dephosphorylates ROCK2 at 'Tyr-722' resulting in stimulation of its RhoA binding activity (PubMed:18559669).
Dephosphorylates CDC73 (PubMed:26742426).
Dephosphorylates SOX9 on tyrosine residues, leading to inactivate SOX9 and promote ossification (By similarity).

Abortive mitotic cell cycleIEA:Ensembl
Atrioventricular canal developmentManual Assertion Based On ExperimentIMP:BHF-UCL
AxonogenesisIEA:Ensembl
Bergmann glial cell differentiationIEA:Ensembl
Brain developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Cellular response to epidermal growth factor stimulusManual Assertion Based On ExperimentIMP:UniProtKB
Cerebellar cortex formationIEA:Ensembl
Cytokine-mediated signaling pathwayTAS:Reactome
DNA damage checkpoint signalingIEA:Ensembl
Ephrin receptor signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Epidermal growth factor receptor signaling pathwayTAS:Reactome
ERBB signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Face morphogenesisManual Assertion Based On ExperimentIMP:BHF-UCL
Fibroblast growth factor receptor signaling pathwayManual Assertion Based On ExperimentIMP:FlyBase
Genitalia developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Glucose homeostasisIEA:Ensembl
Heart developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Homeostasis of number of cells within a tissueIEA:Ensembl
Hormone metabolic processIEA:Ensembl
Hormone-mediated signaling pathwayIEA:Ensembl
Inner ear developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Integrin-mediated signaling pathwayIEA:Ensembl
Intestinal epithelial cell migrationIEA:Ensembl
Megakaryocyte developmentIEA:Ensembl
Microvillus organizationIEA:Ensembl
Multicellular organism growthIEA:Ensembl
Multicellular organismal reproductive processIEA:Ensembl
Negative regulation of cell adhesion mediated by integrinIEA:Ensembl
Negative regulation of chondrocyte differentiationISS:UniProtKB
Negative regulation of cortisol secretionIEA:Ensembl
Negative regulation of growth hormone secretionIEA:Ensembl
Negative regulation of insulin secretionIEA:Ensembl
Neurotrophin TRK receptor signaling pathwayIEA:Ensembl
Organ growthIEA:Ensembl
Peptidyl-tyrosine dephosphorylationManual Assertion Based On ExperimentIDA:UniProtKB
Platelet formationIEA:Ensembl
Platelet-derived growth factor receptor signaling pathwayIEA:Ensembl
Positive regulation of ERK1 and ERK2 cascadeManual Assertion Based On ExperimentIMP:UniProtKB
Positive regulation of glucose importManual Assertion Based On ExperimentIDA:BHF-UCL
Positive regulation of hormone secretionIEA:Ensembl
Positive regulation of insulin receptor signaling pathwayManual Assertion Based On ExperimentIDA:BHF-UCL
Positive regulation of interferon-beta productionISS:ARUK-UCL
Positive regulation of interleukin-6 productionISS:ARUK-UCL
Positive regulation of mitotic cell cycleIEA:Ensembl
Positive regulation of ossificationISS:UniProtKB
Positive regulation of peptidyl-tyrosine phosphorylationManual Assertion Based On ExperimentIMP:ARUK-UCL
Positive regulation of tumor necrosis factor productionISS:ARUK-UCL
Protein dephosphorylationManual Assertion Based On ExperimentIMP:UniProtKB
Regulation of cell adhesion mediated by integrinManual Assertion Based On ExperimentIMP:UniProtKB
Regulation of protein export from nucleusIEA:Ensembl
Regulation of protein-containing complex assemblyManual Assertion Based On ExperimentIDA:BHF-UCL
Regulation of type I interferon-mediated signaling pathwayTAS:Reactome
T cell costimulationTAS:Reactome
Triglyceride metabolic processIEA:Ensembl

Cytoplasm
Nucleus

LEOPARD syndrome 1 (LPRD1):
A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness.
Noonan syndrome 1 (NS1):
A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS1 develop multiple giant cell lesions of the jaw or other bony or soft tissues, which are classified as pigmented villonodular synovitis (PVNS) when occurring in the jaw or joints.
Leukemia, juvenile myelomonocytic (JMML):
An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.
Metachondromatosis (MC):
A skeletal disorder with radiologic features of both multiple exostoses and Ollier disease, characterized by the presence of exostoses, commonly of the bones of the hands and feet, and enchondromas of the metaphyses of long bones and iliac crest.

Phosphorylated on Tyr-542 and Tyr-580 upon receptor protein tyrosine kinase activation; which creates a binding site for GRB2 and other SH2-containing proteins. Phosphorylated upon activation of the receptor-type kinase FLT3. Phosphorylated upon activation of the receptor-type kinase PDGFRA (By similarity).
Phosphorylated by activated PDGFRB.