Reactome | FGFR2b S252W [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

FGFR2b S252W [plasma membrane] Show undefined attributes

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-2011931] FGFR2b S252W mutant dimer [plasma membrane] - Homo sapiens [Complex:R-HSA-2011931] FGFR2b S252W mutant dimer [plasma membrane] - Homo sapiens
created	[InstanceEdit:2011848] Rothfels, K, 2011-11-22
crossReference	[DatabaseIdentifier:12020832] Mondo:0015469 [DatabaseIdentifier:2023336] COSMIC:COSV60638319 [DatabaseIdentifier:2023337] COSMIC:COSM41289
dbId	2011846
disease	[Disease:2011822] acrocephalosyndactylia [Disease:2011847] craniosynostosis [Disease:1614674] female reproductive endometrioid cancer [Disease:1500575] ovarian cancer [Disease:2032940] bone development disease [Disease:1500689] cancer
displayName	FGFR2b S252W [plasma membrane]
endCoordinate	822
hasModifiedResidue	[ReplacedResidue:2011849] L-serine 252 replaced with L-tryptophan
inDisease	true
literatureReference	[LiteratureReference:1637882] Drug-sensitive FGFR2 mutations in endometrial carcinoma [LiteratureReference:1637876] Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome [LiteratureReference:2011820] Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity [LiteratureReference:2029807] FGFR2 mutations are rare across histologic subtypes of ovarian cancer
maxDepth	1
memberOf	[DefinedSet:R-HSA-2033371] FGFR2b mutants with enhanced ligand binding [plasma membrane] - Homo sapiens
modified	[InstanceEdit:5649538] Rothfels, Karen, 2014-11-20
name	FGFR2b S252W FGFR2-3 S252W
referenceEntity	[ReferenceIsoform:uniprot:P21802-3] UniProt:P21802-3 FGFR2
referenceType	ReferenceIsoform
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2011846
startCoordinate	22
summation	[Summation:1637914] also Apert
updateTrackers	[UpdateTracker:9881193] Update Tracker - [EntityWithAccessionedSequence:2011846] FGFR2b S252W [plasma membrane] - v45:[addName] [UpdateTracker:9892188] Update Tracker - [EntityWithAccessionedSequence:2011846] FGFR2b S252W [plasma membrane] - v52:[modifyName]

Referrals

(updatedInstance)	[UpdateTracker:9881193] Update Tracker - [EntityWithAccessionedSequence:2011846] FGFR2b S252W [plasma membrane] - v45:[addName] [UpdateTracker:9892188] Update Tracker - [EntityWithAccessionedSequence:2011846] FGFR2b S252W [plasma membrane] - v52:[modifyName]
(hasComponent)	[Complex:R-HSA-2011931] FGFR2b S252W mutant dimer [plasma membrane]
(hasMember)	[DefinedSet:R-HSA-2033371] FGFR2b mutants with enhanced ligand binding [plasma membrane]