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5 5 F Start 121,130,533 End 121,191,397 pattern Molecular function • • • • • • • • • • • • • • • • • • • Cellular component • • • • • • Biological process • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • Sources: / Species Human Mouse RefSeq (mRNA) RefSeq (protein) Location (UCSC) search Tyrosine-protein phosphatase non-receptor type 11 ( PTPN11) also known as protein-tyrosine phosphatase 1D ( PTP-1D), SHP-2, or protein-tyrosine phosphatase 2C ( PTP-2C) is an that in humans is encoded by the PTPN11. PTPN11 is a (PTP) Shp2. Epson Plq 20 Passbook Printer Driver For Windows 7 here. PTPN11 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 as well as acute myeloid leukemia. Contents • • • • • • • • • • Structure and function [ ] This phosphatase, along with its paralogue,, possesses a domain structure that consists of two tandem in its N-terminus followed by a protein tyrosine phosphatase (PTP) domain. In the inactive state, the N-terminal SH2 domain binds the PTP domain and blocks access of potential substrates to the active site. Thus, Shp2 is auto-inhibited.

Phpstorm Mac Keygen App. Upon binding to target phospho-tyrosyl residues, the N-terminal SH2 domain is released from the PTP domain, catalytically activating the enzyme by relieving this auto-inhibition. Genetic diseases associated with PTPN11 [ ] Missense mutations in the PTPN11 locus are associated with both and. It has also been associated with. Noonan syndrome [ ] In the case of Noonan syndrome, mutations are broadly distributed throughout the coding region of the gene but all appear to result in hyper-activated, or unregulated mutant forms of the protein. Most of these mutations disrupt the binding interface between the N-SH2 domain and catalytic core necessary for the enzyme to maintain its auto-inhibited conformation. Leopard syndrome [ ] The mutations that cause Leopard syndrome are restricted regions affecting the catalytic core of the enzyme producing catalytically impaired Shp2 variants.