|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:c-KIT
gptkb:CD117
|
|
gptkbp:associatedWith
|
gptkb:gastrointestinal_stromal_tumor
gptkb:mastocytosis
gptkb:acute_myeloid_leukemia
melanoma
piebladism
|
|
gptkbp:biologicalProcess
|
gptkb:receptor_tyrosine_kinase
cell proliferation regulation
cell signal transduction
melanogenesis
hematopoiesis
gametogenesis
|
|
gptkbp:clinicalTrialPhase
|
KIT mutation analysis
|
|
gptkbp:discoveredBy
|
S. Besmer
|
|
gptkbp:encodes
|
KIT proto-oncogene receptor tyrosine kinase
|
|
gptkbp:Entrez_Gene_ID
|
3815
|
|
gptkbp:expressedIn
|
gptkb:melanocytes
gptkb:interstitial_cells_of_Cajal
gptkb:germ_cells
hematopoietic stem cells
|
|
gptkbp:firstDescribed
|
1986
|
|
gptkbp:hasBiomarker
|
gptkb:gastrointestinal_stromal_tumor
gptkb:mast_cell_disease
|
|
gptkbp:HGNC_ID
|
HGNC:6342
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
KIT gene
|
|
gptkbp:ligand
|
gptkb:stem_cell_factor
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_4
4q12
|
|
gptkbp:mutationAssociatedWith
|
gain-of-function
loss-of-function
oncogenic activation
loss of function in piebaldism
|
|
gptkbp:OMIM
|
164920
|
|
gptkbp:orthologInMouse
|
gptkb:Kit
|
|
gptkbp:orthologInZebrafish
|
kit
|
|
gptkbp:proteinFamily
|
receptor tyrosine kinase family
PDGF receptor family
|
|
gptkbp:recipient
|
type III receptor tyrosine kinase
|
|
gptkbp:targetOfDrug
|
gptkb:avapritinib
gptkb:dasatinib
gptkb:imatinib
gptkb:regorafenib
gptkb:sunitinib
gptkb:ripretinib
gptkb:nilotinib
|
|
gptkbp:UniProtID
|
P10721
|
|
gptkbp:bfsParent
|
gptkb:c-KIT
gptkb:c-Kit
|
|
gptkbp:bfsLayer
|
7
|