Overview:

PTPN11 (SHP2) is one of the 2 closely related mammalian intracellular PTPases whose sequences encode 2 tandem SRC homology 2 (SH2) domains that are located at the amino-terminal side of a single PTPase catalytic domain (1). 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 (2). Mutations in this gene are a cause of Noonan syndrome, Cardiofacio-cutaneous Syndrome as well as acute myeloid leukemia.

References:

1. Dechert, U. et al: Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1-24.3. Hum. Genet. 96: 609-615, 1995.

2. Ahmad, S. et al: A widely expressed human protein-tyrosine phosphatase containing src homology 2 domains. Proc. Nat. Acad. Sci. 90: 2197-2201, 1993.