Reactome | Activated point mutants of FGFR2

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Activated point mutants of FGFR2 Show undefined attributes

authored	[InstanceEdit:2105031] Rothfels, K, 2012-02-09
compartment	[Compartment:876] plasma membrane [Compartment:70101] cytosol [Compartment:984] extracellular region
created	[InstanceEdit:2033520] Rothfels, K, 2012-01-09
crossReference	[DatabaseIdentifier:12020828] Mondo:0005497
dbId	2033519
disease	[Disease:1500689] cancer [Disease:2032940] bone development disease
displayName	Activated point mutants of FGFR2
edited	[InstanceEdit:2252592] Rothfels, K, 2012-05-16
eventOf	[Pathway:R-HSA-1839126] FGFR2 mutant receptor activation - Homo sapiens
hasDiagram	false
hasEHLD	false
hasEvent	[Reaction:R-HSA-2029983] Dimerization of FGFR2 ligand-independent mutants - Homo sapiens [Reaction:R-HSA-2029984] Autocatalytic phosphorylation of FGFR2 ligand-independent mutants - Homo sapiens [Reaction:R-HSA-2033474] FGFR2b mutants bind an expanded range of ligands - Homo sapiens [Reaction:R-HSA-2033488] Autocatalytic phosphorylation of FGFR2b mutants with enhanced ligand binding - Homo sapiens [Reaction:R-HSA-2077421] FP-1039 acts as a ligand-trap for FGFR2b-binding ligands in endometrial cancer - Homo sapiens [Reaction:R-HSA-2033472] FGFR2c mutants bind an expanded range of ligands - Homo sapiens [Reaction:R-HSA-2033486] Autocatalytic phosphorylation of FGFR2c mutants with enhanced ligand binding - Homo sapiens [Reaction:R-HSA-2033479] Dimerization of FGFR2 point mutants with enhanced kinase activity - Homo sapiens [Reaction:R-HSA-2033490] Autocatalytic phosphorylation of FGFR2 point mutants with enhanced kinase activity - Homo sapiens [Reaction:R-HSA-2077424] Point mutants of FGFR2 bind and are inactivated by tyrosine kinase inhibitors - Homo sapiens
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:1637882] Drug-sensitive FGFR2 mutations in endometrial carcinoma [LiteratureReference:1637891] Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes [LiteratureReference:2029807] FGFR2 mutations are rare across histologic subtypes of ovarian cancer [LiteratureReference:1637923] Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers [LiteratureReference:2045065] Fibroblast growth factor receptors: lessons from the genes [LiteratureReference:2045061] FGFR activation in skeletal disorders: too much of a good thing [LiteratureReference:2012014] Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome [LiteratureReference:2029802] Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities [LiteratureReference:2032931] Inhibition of activated fibroblast growth factor receptor 2 in endometrial cancer cells induces cell death despite PTEN abrogation [LiteratureReference:2033243] A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases [LiteratureReference:2029799] Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain [LiteratureReference:2046359] Syndromic craniosynostosis: from history to hydrogen bonds [LiteratureReference:2023308] A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome [LiteratureReference:1637876] Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome [LiteratureReference:2045069] Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes [LiteratureReference:2029809] Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome [LiteratureReference:2054054] Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
maxDepth	2
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Activated point mutants of FGFR2
releaseDate	2012-06-12
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:2248845] Ezzat, S, 2012-05-15
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-2033519
summation	[Summation:2060289] Autosomal dominant mutations in FGFR2 are associated with th...

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(hasEvent)

[Pathway:R-HSA-1839126] FGFR2 mutant receptor activation

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