DISEASES

Disease-gene associations mined from literature

Literature associating PTPN11 and congenital heart disease

PTPN11 [ENSP00000340944]

Protein tyrosine phosphatase, non-receptor type 11; Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus. Positively regulates MAPK signal transduction pathway. Dephosphorylates GAB1, ARHGAP35 and EGFR. Dephosphorylates ROCK2 at 'Tyr-722' resulting in stimulatation of its RhoA binding activity. Dephosphorylates CDC73; Protein tyrosine phosphatases, non-receptor type

Synonyms:  PTPN11,  PTPN11p,  hPTPN11,  B3GUD3,  B3GUD4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM