Reactome | FGFR2c A315S [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

FGFR2c A315S [plasma membrane] Show undefined attributes

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-2071933] FGFR2c A315S mutant dimer [plasma membrane] - Homo sapiens [Complex:R-HSA-2071933] FGFR2c A315S mutant dimer [plasma membrane] - Homo sapiens
created	[InstanceEdit:2071930] Rothfels, K, 2012-01-26
crossReference	[DatabaseIdentifier:12021296] Mondo:0021002
dbId	2071931
disease	[Disease:2032940] bone development disease [Disease:2071917] syndactyly
displayName	FGFR2c A315S [plasma membrane]
endCoordinate	821
hasModifiedResidue	[ReplacedResidue:2071923] L-alanine 315 replaced with L-serine
inDisease	true
literatureReference	[LiteratureReference:2071925] FGFs, their receptors, and human limb malformations: clinical and molecular correlations [LiteratureReference:2029802] Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities
maxDepth	1
memberOf	[CandidateSet:R-HSA-2033375] FGFR2c mutants with enhanced ligand binding [plasma membrane] - Homo sapiens
modified	[InstanceEdit:5649552] Rothfels, Karen, 2014-11-20
name	FGFR2c A315S FGFR2-1 A315S
referenceEntity	[ReferenceIsoform:uniprot:P21802-1] UniProt:P21802-1 FGFR2
referenceType	ReferenceIsoform
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2071931
startCoordinate	22
updateTrackers	[UpdateTracker:9881323] Update Tracker - [EntityWithAccessionedSequence:2071931] FGFR2c A315S [plasma membrane] - v45:[addName] [UpdateTracker:9891719] Update Tracker - [EntityWithAccessionedSequence:2071931] FGFR2c A315S [plasma membrane] - v52:[modifyName]

Referrals

(updatedInstance)	[UpdateTracker:9881323] Update Tracker - [EntityWithAccessionedSequence:2071931] FGFR2c A315S [plasma membrane] - v45:[addName] [UpdateTracker:9891719] Update Tracker - [EntityWithAccessionedSequence:2071931] FGFR2c A315S [plasma membrane] - v52:[modifyName]
(hasMember)	[CandidateSet:R-HSA-2033375] FGFR2c mutants with enhanced ligand binding [plasma membrane]
(hasComponent)	[Complex:R-HSA-2071933] FGFR2c A315S mutant dimer [plasma membrane]

Cite Us!