Aliases for PTPN11 Gene
External Ids for PTPN11 Gene
Previous HGNC Symbols for PTPN11 Gene
Previous GeneCards Identifiers for PTPN11 Gene
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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
GeneCards Summary for PTPN11 Gene
PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11) is a Protein Coding gene. Diseases associated with PTPN11 include Noonan Syndrome 1 and Leukemia, Acute Myelomonocytic, Somatic, Somatic. Among its related pathways are Axon guidance and Kit Receptor Signaling Pathway. GO annotations related to this gene include protein domain specific binding and protein tyrosine phosphatase activity. An important paralog of this gene is PTPRO.
UniProtKB/Swiss-Prot for PTPN11 Gene
Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus. Dephosphorylates ROCK2 at Tyr-722 resulting in stimulatation of its RhoA binding activity.
Protein tyrosine phosphatases (PTPs) are a group of enzymes that catalyze the removal of phosphate groups from tyrosine residues by the hydrolysis of phosphoric acid monoesters. They directly oppose the actions of kinase and phosphorylase enzymes.