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Reaction
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Entries
Dimerization of FGFR3 point mutants with enhanced kinase activity
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authored
[InstanceEdit:2105031] Rothfels, K, 2012年02月09日
category
transition
compartment
[Compartment:876] plasma membrane
created
[InstanceEdit:2033477] Rothfels, K, 2012年01月09日
crossReference
[DatabaseIdentifier:11944971] Mondo:0005497
[DatabaseIdentifier:11944892] Mondo:0004992
dbId
2033476
disease
[Disease:1500689] cancer
[Disease:2032940] bone development disease
displayName
Dimerization of FGFR3 point mutants with enhanced kinase activity
edited
[InstanceEdit:2252592] Rothfels, K, 2012年05月16日
entityFunctionalStatus
[EntityFunctionalStatus:5654492] gain_of_function of FGFR3 point mutants with enhanced kinase activity [plasma membrane]
eventOf
[Pathway:R-HSA-1839130] Signaling by activated point mutants of FGFR3 - Homo sapiens
followingEvent
[Reaction:R-HSA-2033485] Autocatalytic phosphorylation of FGFR3 point mutants with enhanced kinase activity - Homo sapiens
input
2 ×
[CandidateSet:R-HSA-2018770] FGFR3 point mutants with enhanced kinase activity [plasma membrane]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:2032929] Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia
[LiteratureReference:2032927] Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype
[LiteratureReference:2032934] Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II
[LiteratureReference:2045066] Fibroblast growth factors and their receptors in cancer
[LiteratureReference:2045061] FGFR activation in skeletal disorders: too much of a good thing
[LiteratureReference:1637852] Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia
[LiteratureReference:2045065] Fibroblast growth factor receptors: lessons from the genes
[LiteratureReference:1614274] Targeting mutant fibroblast growth factor receptors in cancer
[LiteratureReference:2032925] Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C, K650E and the novel G384D mutations
[LiteratureReference:1637853] Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders
[LiteratureReference:2032919] Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors
[LiteratureReference:2032920] Constitutive activating mutation of the FGFR3b in oral squamous cell carcinomas
[LiteratureReference:2065338] Molecular characterization of early-stage bladder carcinomas by expression profiles, FGFR3 mutation status, and loss of 9q
maxDepth
1
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023年03月08日
name
Dimerization of FGFR3 point mutants with enhanced kinase activity
output
[CandidateSet:R-HSA-2033383] FGFR3 point mutant dimers with enhanced kinase activity [plasma membrane]
releaseDate
2012年06月12日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:2248845] Ezzat, S, 2012年05月15日
schemaClass
Reaction
species
[Species:48887] Homo sapiens
stId
R-HSA-2033476
summation
[Summation:2065320] Activating point mutations G380R, N540K and K650E/M/N/Q in F...
Referrals
(hasEvent)
[Pathway:R-HSA-1839130] Signaling by activated point mutants of FGFR3
(precedingEvent)
[Reaction:R-HSA-2033485] Autocatalytic phosphorylation of FGFR3 point mutants with enhanced kinase activity
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