Reactome | MAP2K2 P128Q [cytosol]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:70101] cytosol
componentOf	[Complex:R-HSA-9652104] MAP2K2 P128Q dimer [cytosol] - Homo sapiens [Complex:R-HSA-9652104] MAP2K2 P128Q dimer [cytosol] - Homo sapiens
created	[InstanceEdit:9652083] Rothfels, Karen, 2019-06-27
crossReference	[DatabaseIdentifier:12020780] Mondo:0015280 [DatabaseIdentifier:9651843] ClinGen:CA279962
dbId	9652082
disease	[Disease:9651119] cardiofaciocutaneous syndrome
displayName	MAP2K2 P128Q [cytosol]
endCoordinate	400
hasModifiedResidue	[ReplacedResidue:9651893] L-proline 128 replaced with L-glutamine
inDisease	true
literatureReference	[LiteratureReference:9651951] Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations
maxDepth	1
name	MAP2K2 P128Q MEK2 Dual specificity mitogen-activated protein kinase kinase 2 (EC 2.7.1.-) (MAP kinase kinase 2) (MAPKK 2) (ERK activator kinase 2) (MAPK/ERK kinase 2) (MEK2) Dual specificity mitogen-activated protein kinase kinase 2 MAP kinase kinase 2 MAPKK 2 ERK activator kinase 2 MAPK/ERK kinase 2
referenceEntity	[ReferenceGeneProduct:uniprot:P36507] UniProt:P36507 MAP2K2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9652082
startCoordinate	1

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