Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

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).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
5781 12 12q24.13 NM_002834 Oncogene (PMID: 30606230)
Additional content available in CKB BOOST