Gene Detail


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Gene Symbol PTPN11
Synonyms BPTP3 | CFC | JMML | METCDS | NS1 | PTP-1D | PTP2C | SH-PTP2 | SH-PTP3 | SHP2
Gene Description PTPN11, protein tyrosine phosphatase non-receptor type 11, is a member of the PTP Src homology-2 (SH2) domain-containing phosphatases that induces the MAPK signal transduction pathway to regulate growth factor signaling and has been characterized as both an oncogene and tumor suppressor (PMID: 20337577, PMID: 28074573). PTPN11 activating mutations have been identified in a variety of tumors including, lung, colon, brain, thyroid, skin and heme (PMID: 18286234, PMID: 21407260), PTPN11 hypomethylation has been observed in gastric cancer (PMID: 32194661), and germline mutations are implicated in Noonan syndrome (PMID: 28328117, PMID: 32233106).


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Variant Impact Protein Effect Variant Description Associated with drug Resistance
act mut unknown gain of function PTPN11 act mut indicates that this variant results in a gain of function in the Ptpn11 protein. However, the specific amino acid change has not been identified.
inact mut unknown loss of function PTPN11 inact mut indicates that this variant results in a loss of function of the Ptpn11 protein. However, the specific amino acid change has not been identified.
mutant unknown unknown PTPN11 mutant indicates an unspecified mutation in the PTPN11 gene.