Reactome | Signaling by FGFR3 in disease

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Signaling by FGFR3 in disease Show undefined attributes

authored	[InstanceEdit:5649606] Rothfels, Karen, 2014-11-20
created	[InstanceEdit:5655319] Rothfels, Karen, 2014-12-05
crossReference	[DatabaseIdentifier:12020828] Mondo:0005497 [DatabaseIdentifier:12819431] BioModels Database:BIOMD0000000883
dbId	5655332
deleted	[Deleted:6789868] Deletion of instance: 5655272 [Deleted:9768276] Deletion of instance: 8853338
disease	[Disease:1500689] cancer [Disease:2032940] bone development disease
displayName	Signaling by FGFR3 in disease
eventOf	[Pathway:R-HSA-1226099] Signaling by FGFR in disease - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[Pathway:R-HSA-2033514] FGFR3 mutant receptor activation - Homo sapiens [Reaction:R-HSA-5655262] Activated FGFR3 point, translocation and fusion mutants bind FRS2 - Homo sapiens [Reaction:R-HSA-5655270] Activated FGFR3 point, translocation and fusion mutants phosphorylate FRS2 - Homo sapiens [Reaction:R-HSA-5655295] Activated FGFR3 point, translocation and fusion mutants:p-FRS2 binds GRB2-SOS1 - Homo sapiens [Reaction:R-HSA-5655277] Activated FGFR3 point, translocation and fusion mutants:p-FRS2:GRB2:SOS1 activates RAS nucleotide exchange - Homo sapiens [Reaction:R-HSA-5655315] Activated FGFR3 point, translocation and fusion mutants:p-FRS2 binds GRB2:GAB1:PIK3R1 - Homo sapiens [Reaction:R-HSA-5655285] Activated FGFR3 point, translocation and fusion mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CA - Homo sapiens [Reaction:R-HSA-5655289] Activated FGFR3 point, translocation and fusion mutant-associated PI3K phosphorylates PIP2 to PIP3 - Homo sapiens [Reaction:R-HSA-5655244] Activated FGFR3 point and translocation mutants bind PLCG1 - Homo sapiens [Reaction:R-HSA-5655243] Activated FGFR3 point and translocation mutants phosphorylate PLCG1 - Homo sapiens [Reaction:R-HSA-5655247] p-4Y-PLCG1 dissociates from activated FGFR3 point and translocation mutants - Homo sapiens [Reaction:R-HSA-2077420] FGFR3 mutants bind and are inactivated by tyrosine kinase inhibitors - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2021-12-08
literatureReference	[LiteratureReference:2045061] FGFR activation in skeletal disorders: too much of a good thing [LiteratureReference:2045065] Fibroblast growth factor receptors: lessons from the genes [LiteratureReference:2046366] FGFR3-related dwarfism and cell signaling [LiteratureReference:2033245] High incidence of translocations t(11;14)(q13;q32) and t(4;14)(p16;q32) in patients with plasma cell malignancies [LiteratureReference:2045073] Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1) [LiteratureReference:2060831] Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia [LiteratureReference:2038356] Stop codon FGFR3 mutations in thanatophoric dwarfism type 1 [LiteratureReference:2064376] Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I [LiteratureReference:2060842] Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia [LiteratureReference:2054054] Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 [LiteratureReference:2032916] A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene [LiteratureReference:2054031] A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia [LiteratureReference:2060844] Achondroplasia is defined by recurrent G380R mutations of FGFR3 [LiteratureReference:2045069] Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes [LiteratureReference:2060834] Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3 [LiteratureReference:2018765] Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I [LiteratureReference:2032927] Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype [LiteratureReference:2032929] Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia [LiteratureReference:2060840] Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis [LiteratureReference:2029802] Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities [LiteratureReference:2060759] Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner [LiteratureReference:2064367] Frequency of fibroblast growth factor receptor 3 mutations in sporadic tumours [LiteratureReference:2045066] Fibroblast growth factors and their receptors in cancer [LiteratureReference:2033248] Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3 [LiteratureReference:1226112] Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas [LiteratureReference:8852997] TACC3 protein regulates microtubule nucleation by affecting ?-tubulin ring complexes [LiteratureReference:8852986] Oncogenic FGFR3 gene fusions in bladder cancer [LiteratureReference:8852972] Identification of targetable FGFR gene fusions in diverse cancers [LiteratureReference:8852927] FGFR1/3 tyrosine kinase fusions define a unique molecular subtype of non-small cell lung cancer [LiteratureReference:8852989] Recurrent FGFR3-TACC3 fusion gene in nasopharyngeal carcinoma [LiteratureReference:8852916] Emergence of FGFR family gene fusions as therapeutic targets in a wide spectrum of solid tumours [LiteratureReference:8853033] The tumorigenic FGFR3-TACC3 gene fusion escapes miR-99a regulation in glioblastoma
maxDepth	4
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Signaling by FGFR3 in disease
normalPathway	[Pathway:R-HSA-5654741] Signaling by FGFR3
releaseDate	2012-06-12
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:2248845] Ezzat, S, 2012-05-15 [InstanceEdit:8853855] Grose, Richard P, 2016-01-25
revised	[InstanceEdit:8851715] Rothfels, Karen, 2016-01-08
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-5655332
summation	[Summation:2060764] The FGFR3 gene has been shown to be subject to activating mu...
updateTrackers	[UpdateTracker:9775317] Update Tracker - [Pathway:5655332] Signaling by FGFR3 in disease - v79:[add_removeHasEvent, updateContainedPathway, updateContainedRLE] [UpdateTracker:9784743] Update Tracker - [Pathway:5655332] Signaling by FGFR3 in disease - v53:[add_removeHasEvent, add_removeLiteratureReference, add_removeSummation, updateContainedPathway] [UpdateTracker:9783755] Update Tracker - [Pathway:5655332] Signaling by FGFR3 in disease - v56:[addLiteratureReference, add_removeHasEvent, modifyText]

Referrals

(hasEvent)	[Pathway:R-HSA-1226099] Signaling by FGFR in disease
(replacementInstances)	[Deleted:6789868] Deletion of instance: 5655272 [Deleted:9768276] Deletion of instance: 8853338
(updatedInstance)	[UpdateTracker:9775317] Update Tracker - [Pathway:5655332] Signaling by FGFR3 in disease - v79:[add_removeHasEvent, updateContainedPathway, updateContainedRLE] [UpdateTracker:9784743] Update Tracker - [Pathway:5655332] Signaling by FGFR3 in disease - v53:[add_removeHasEvent, add_removeLiteratureReference, add_removeSummation, updateContainedPathway] [UpdateTracker:9783755] Update Tracker - [Pathway:5655332] Signaling by FGFR3 in disease - v56:[addLiteratureReference, add_removeHasEvent, modifyText]

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