Reactome | p-8Y-FGFR2c S252W [plasma membrane]

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p-8Y-FGFR2c S252W [plasma membrane] Show undefined attributes

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-2011964] p-8Y-FGFR2c S252W dimer [plasma membrane] - Homo sapiens [Complex:R-HSA-2011964] p-8Y-FGFR2c S252W dimer [plasma membrane] - Homo sapiens
created	[InstanceEdit:2011878] Rothfels, K, 2011-11-22
crossReference	[DatabaseIdentifier:12020832] Mondo:0015469
dbId	2011879
disease	[Disease:2011822] acrocephalosyndactylia [Disease:2011847] craniosynostosis [Disease:1500689] cancer [Disease:1614674] female reproductive endometrioid cancer [Disease:1500575] ovarian cancer
displayName	p-8Y-FGFR2c S252W [plasma membrane]
endCoordinate	821
hasModifiedResidue	[ModifiedResidue:1307864] O4'-phospho-L-tyrosine at 466 [ModifiedResidue:1307872] O4'-phospho-L-tyrosine at 586 [ModifiedResidue:1307873] O4'-phospho-L-tyrosine at 588 [ModifiedResidue:1307882] O4'-phospho-L-tyrosine at 656 [ModifiedResidue:1307883] O4'-phospho-L-tyrosine at 657 [ModifiedResidue:1307889] O4'-phospho-L-tyrosine at 733 [ModifiedResidue:1307900] O4'-phospho-L-tyrosine at 769 [ModifiedResidue:1307907] O4'-phospho-L-tyrosine at 779 [ReplacedResidue:2033281] 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
modified	[InstanceEdit:5649623] Rothfels, Karen, 2014-11-20
name	p-8Y-FGFR2c S252W p-8Y-FGFR2-1 S252W
referenceEntity	[ReferenceIsoform:uniprot:P21802-1] UniProt:P21802-1 FGFR2
referenceType	ReferenceIsoform
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2011879
startCoordinate	22
summation	[Summation:1637914] also Apert
updateTrackers	[UpdateTracker:9890395] Update Tracker - [EntityWithAccessionedSequence:2011879] p-8Y-FGFR2c S252W [plasma membrane] - v52:[modifyName] [UpdateTracker:9881831] Update Tracker - [EntityWithAccessionedSequence:2011879] p-8Y-FGFR2c S252W [plasma membrane] - v45:[addName]

Referrals

(updatedInstance)	[UpdateTracker:9890395] Update Tracker - [EntityWithAccessionedSequence:2011879] p-8Y-FGFR2c S252W [plasma membrane] - v52:[modifyName] [UpdateTracker:9881831] Update Tracker - [EntityWithAccessionedSequence:2011879] p-8Y-FGFR2c S252W [plasma membrane] - v45:[addName]
(hasComponent)	[Complex:R-HSA-2011964] p-8Y-FGFR2c S252W dimer [plasma membrane]