|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CEK2
gptkb:JTK4
gptkb:ACH
gptkb:CD333
HSFGFR3EX
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Muenke_syndrome
gptkb:hypochondroplasia
gptkb:thanatophoric_dysplasia
bladder cancer
achondroplasia
|
|
gptkbp:associatedWithSkeletalDysplasia
|
yes
|
|
gptkbp:discoveredBy
|
Yayon et al.
|
|
gptkbp:discoveredIn
|
1990
|
|
gptkbp:encodes
|
gptkb:FGFR3_protein
|
|
gptkbp:Entrez_Gene_ID
|
2261
|
|
gptkbp:expressedIn
|
gptkb:kidney
brain
collagen
bladder
|
|
gptkbp:fullName
|
fibroblast growth factor receptor 3
|
|
gptkbp:function
|
cell differentiation
cell growth regulation
receptor tyrosine kinase activity
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:3689
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
FGFR3 gene
|
|
gptkbp:involves
|
gptkb:MAPK_signaling_pathway
gptkb:PI3K-Akt_signaling_pathway
gptkb:FGF_signaling_pathway
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_4
gptkb:4p16.3
|
|
gptkbp:mutationAssociatedWith
|
gain-of-function
G380R
K650E
S249C
Y373C
|
|
gptkbp:OMIM
|
134934
|
|
gptkbp:orthologInMouse
|
Fgfr3
|
|
gptkbp:orthologInZebrafish
|
fgfr3a
fgfr3b
|
|
gptkbp:proteinFamily
|
immunoglobulin-like domain
tyrosine kinase domain
fibroblast growth factor receptor family
|
|
gptkbp:targetOfDrug
|
gptkb:erdafitinib
gptkb:infigratinib
gptkb:pemigatinib
|
|
gptkbp:UniProtID
|
gptkb:P22607
|
|
gptkbp:bfsParent
|
gptkb:FGFR
|
|
gptkbp:bfsLayer
|
6
|