Gene Symbol | PTPN11 |
Entrez Gene ID | 5781 |
Full Name | protein tyrosine phosphatase, non-receptor type 11 |
Synonyms | BPTP3,CFC,JMML,METCDS,NS1,PTP-1D,PTP2C,SH-PTP2,SH-PTP3,SHP2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Aug 2016]. |
Disorder MIM: | |
Disorder Html: | Noonan syndrome 1, 163950 (3); LEOPARD syndrome 1, 151100 (3); Leukemia, juvenile myelomonocytic, somatic, 607785 (3); Metachondromatosis, 156250 (3) |