|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:PTP-1D
gptkb:PTP2C
gptkb:SHP2
gptkb:NS1
|
|
gptkbp:alternativeName
|
gptkb:SHP2
gptkb:protein_tyrosine_phosphatase,_non-receptor_type_11
|
|
gptkbp:associatedWith
|
gptkb:LEOPARD_syndrome
gptkb:juvenile_myelomonocytic_leukemia
gptkb:Noonan_syndrome
|
|
gptkbp:biologicalProcess
|
gptkb:migration
apoptosis
differentiation
signal transduction
cell growth
phosphatase activity
protein tyrosine phosphatase activity
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for Noonan syndrome
|
|
gptkbp:discoveredBy
|
gptkb:Tartaglia_et_al.
|
|
gptkbp:encodes
|
gptkb:SHP-2_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000179295
5781
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:firstDescribed
|
1994
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
9644
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PTPN11
|
|
gptkbp:interactsWith
|
gptkb:EGFR
gptkb:GAB1
gptkb:PDGFR
gptkb:Sos1
gptkb:GRB2
|
|
gptkbp:length
|
593 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_12
12q24.13
|
|
gptkbp:mutationAssociatedWith
|
somatic mutations
de novo mutations
gain-of-function mutations cause Noonan syndrome
germline mutations
missense mutations
mutations can cause hematologic malignancies
|
|
gptkbp:OMIM
|
176876
|
|
gptkbp:orthologInMouse
|
gptkb:Ptpn11
|
|
gptkbp:proteinFamily
|
SH2 domain
PTP domain
|
|
gptkbp:proteinWeight
|
68 kDa
|
|
gptkbp:regulates
|
gptkb:PI3K/AKT_pathway
gptkb:JAK/STAT_pathway
gptkb:RAS/MAPK_pathway
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
gptkb:cytoplasm
|
|
gptkbp:UniProtID
|
Q06124
|
|
gptkbp:bfsParent
|
gptkb:GAB2
gptkb:PDGFRB
gptkb:FGFR1
gptkb:Noonan_syndrome
gptkb:protein_tyrosine_phosphatases
|
|
gptkbp:bfsLayer
|
6
|