|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:PTP-1D
gptkb:PTP2C
gptkb:SHP2
gptkb:NS1
|
|
gptkbp:associatedWith
|
gptkb:LEOPARD_syndrome
gptkb:juvenile_myelomonocytic_leukemia
gptkb:Noonan_syndrome
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for Noonan syndrome
|
|
gptkbp:discoveredBy
|
gptkb:Takahashi_et_al.
|
|
gptkbp:encodes
|
gptkb:tyrosine-protein_phosphatase_non-receptor_type_11
|
|
gptkbp:Entrez_Gene_ID
|
5781
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:firstDescribed
|
1992
|
|
gptkbp:function
|
signal transduction
protein tyrosine phosphatase activity
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
9644
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PTPN11 gene
|
|
gptkbp:involvedIn
|
gptkb:RAS/MAPK_signaling_pathway
|
|
gptkbp:length
|
16 exons
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_12
12q24.13
|
|
gptkbp:mutationAssociatedWith
|
developmental disorders
missense mutation
gain-of-function mutation
|
|
gptkbp:OMIM
|
176876
|
|
gptkbp:orthologInMouse
|
gptkb:Ptpn11
|
|
gptkbp:product
|
gptkb:SHP-2
|
|
gptkbp:proteinFamily
|
gptkb:protein_tyrosine_phosphatase_family
|
|
gptkbp:UniProtID
|
Q06124
|
|
gptkbp:bfsParent
|
gptkb:RTK-RAS_pathway
|
|
gptkbp:bfsLayer
|
6
|