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. Mutations 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 mutations in the SHP-2 catalytic domain. PTPN11 mutations 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 mutations 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.
Other IBT bioinformatics services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
Immunome Knowledge Base (IKB) - An integrated service for immunome research
SH2base - Database for pathogenic SH2 domain mutations