Short description of the PTPN11base :
The PTPN11 gene encodes SHP-2, a cytoplasmic tyrosine phosphatase that consists of two tandemly arranged SH2 domains at the N-terminus, a catalytic domain, and a C-terminal tail. SHP-2 is a critical component in several signalling pathways involved in the control of developmental processes, hematopoiesis, and metabolism. Variations in PTPN11 cause Noonan syndrome (NS), a developmental disorder characterized by facial dysmorphisms, short stature, skeletal and haematological defects, and cardiovascular abnormalities. Leopard sydrome (LS), a clinically related disorder, is caused by variations in the SHP-2 catalytic domain. PTPN11 variations also occur in several human cancers, including juvenile myelomonocytic leukaemia (JMML), myelodysplastic syndrome (MDS), B-cell acute lymphoblastic leukaemia (BLL), and acute myelogeneous leukaemia (AML). The activating PTPN11 variations play a broad role in cancer, because SHP-2 acts as a signal-enhancing signalling component in pathways that regulate cell growth, transformation, differentiation, and migration. The protein is also required for normal Ras activation in many of these pathways.
Our other bioinformatics services:
SH2base - Database for pathogenic SH2 domain variations
KinMutBase - A registry of disease-causing variations in protein kinase domains
This site is updated by Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 23.05.2014