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PTPN11 - protein tyrosine phosphatase non-receptor type 11
- Synonym(s) : BPTP3, PTP2C, SH2 domain-containing protein tyrosine phosphatase 2, SHP2, SHP-2, SH-PTP2
- Previous symbols and names : NS1, Noonan syndrome 1, protein tyrosine phosphatase, non-receptor type 11
- Type : gene with protein product
- Chromosomal location : 12q24.13
- OMIM: 176876
- HGNC: 9644
- UniProtKB: Q06124
- Genatlas: PTPN11
- GenCC: PTPN11
- Ensembl: ENSG00000179295
- IUPHAR-DB: 3203
- Reactome: Q06124
- LOVD: PTPN11
Diseases list
- Disease-causing germline mutation(s) in Noonan syndrome
ORPHA:648 
- Disease-causing germline mutation(s) in Noonan syndrome with multiple lentigines
ORPHA:500 - Disease-causing germline mutation(s) (loss of function) in Metachondromatosis
ORPHA:2499 - Disease-causing somatic mutation(s) in Juvenile myelomonocytic leukemia
ORPHA:86834
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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