Tyrosine-protein phosphatase non-receptor type 11 (PTPN11) also known as protein-tyrosine phosphatase 1D (PTP-1D), Src homology region 2 domain-containing phosphatase-2 (SHP-2), or protein-tyrosine phosphatase 2C (PTP-2C) is an enzyme that in humans is encoded by the PTPN11 gene. PTPN11 is a protein tyrosine phosphatase (PTP) Shp2.[5][6]
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 Noonan syndrome as well as acute myeloid leukemia.[7]
^ abcGRCh38: Ensembl release 89: ENSG00000179295 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000043733 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Jamieson CR, van der Burgt I, Brady AF, van Reen M, Elsawi MM, Hol F, Jeffery S, Patton MA, Mariman E (December 1994). "Mapping a gene for Noonan syndrome to the long arm of chromosome 12". Nat. Genet. 8 (4): 357–60. doi:10.1038/ng1294-357. PMID 7894486. S2CID 1582162.
^Freeman RM, Plutzky J, Neel BG (December 1992). "Identification of a human Src homology 2-containing protein-tyrosine-phosphatase: a putative homolog of Drosophila corkscrew". Proc. Natl. Acad. Sci. U.S.A. 89 (23): 11239–43. Bibcode:1992PNAS...8911239F. doi:10.1073/pnas.89.23.11239. PMC 50525. PMID 1280823.
^"Entrez Gene: PTPN11 protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)".
enzyme that in humans is encoded by the PTPN11 gene. PTPN11 is a protein tyrosine phosphatase (PTP) Shp2. PTPN11 is a member of the protein tyrosine phosphatase...
genes are involved in the genetic etiology of NS, with the key ones being PTPN11 accounting for 50% of genetically diagnosed cases, SOS1 responsible for...
mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11). The disease is a complex of features, mostly involving the skin, skeletal...
mutations in HRAS. Mutations that cause Noonan syndrome have been found in PTPN11 and SOS1. The relative severity of CFC when compared to Noonan syndrome...
Noonan syndrome has also been shown to be caused by mutations in KRAS and PTPN11 genes. A common feature of these genes is that their products have all been...
tumors may seen in the context of LEOPARD syndrome, due to a mutation in the PTPN11 gene. These tumors, on occasion, may appear similar to neoplasms of renal...
as a binding protein and substrate of protein tyrosine phosphatase Shp2/PTPN11. Two other groups later cloned GAB2 by searching DNA database for protein...
researchers looked at and around the most common Noonan syndrome mutation, PTPN11, but did not find anything related to Costello syndrome or cardiofaciocutaneous...
joints, and flat bones. The disease is thought to affect exon 4 of the PTPN11 gene. Metachondromatosis is believed to be caused by an 11 base pair deletion...
encoding protein Proline-rich protein 4 PTMS: encoding protein Parathymosin PTPN11: protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)...
has been shown to interact with ENPP1, GRB10, GRB7, IRS1, MAD2L1, PRKCD, PTPN11, and SH2B1. GRCh38: Ensembl release 89: ENSG00000171105 – Ensembl, May 2017...
adaptor and other cellular proteins, such as GRB2, IRS1, Shc, Src, FRS2, PTPN11/Shp2, PLCγ, PI3K, and NF1. Other reported downstream ALK targets include...
leukemia cells) Another 35% of patients with a mutation in a gene called PTPN11 (again, only in their leukemia cells). The following criteria are required...
lifespan. Growth hormone receptor has been shown to interact with SGTA, PTPN11, Janus kinase 2, Suppressor of cytokine signaling 1 and CISH. The GHR gene...
genetic testing revealing that both of the siblings with NS share the same PTPN11 haplotype from both parents, while a distinct paternal and maternal haplotype...
LEOPARD syndrome, Noonan syndrome, and metachondromatosis are associated with PTPN11. Elevated levels of activated PTPN5 negatively affects synaptic stability...
of publications on CD45 (also known as PTPRC), on SHP-2 (also known as PTPN11), on the use of therapeutic monoclonal antibodies, and on the discovery...
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