Reactome | MAP2K mutants constitutively phosphorylate MAPKs

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MAP2K mutants constitutively phosphorylate MAPKs Show undefined attributes

authored	[InstanceEdit:9664643] Rothfels, Karen, 2019-10-25
catalystActivity	[CatalystActivity:9652163] protein serine/threonine kinase activity of MAP2K1 and MAP2K2 mutants [cytosol]
category	transition
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9652166] Rothfels, Karen, 2019-06-27
crossReference	[DatabaseIdentifier:12020780] Mondo:0015280
dbId	9652165
disease	[Disease:1500689] cancer [Disease:9651119] cardiofaciocutaneous syndrome
displayName	MAP2K mutants constitutively phosphorylate MAPKs
edited	[InstanceEdit:9690121] Rothfels, Karen, 2020-05-26
entityFunctionalStatus	[EntityFunctionalStatus:9652162] gain_of_function of MAP2K1 and MAP2K2 mutants [cytosol]
eventOf	[Pathway:R-HSA-9652169] Signaling by MAP2K mutants - Homo sapiens
input	2 × [SimpleEntity:R-ALL-113592] ATP [cytosol] [DefinedSet:R-HSA-169291] MAPKs [cytosol]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9651936] Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma [LiteratureReference:9650998] Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome [LiteratureReference:9651983] RAS signalling is abnormal in a c-raf1 MEK1 double mutant [LiteratureReference:9651979] Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma [LiteratureReference:9651955] Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy [LiteratureReference:9652007] The genetic landscape of clinical resistance to RAF inhibition in metastatic melanoma [LiteratureReference:9651958] Next-generation sequencing identifies rare variants associated with Noonan syndrome [LiteratureReference:9651920] Dissecting therapeutic resistance to RAF inhibition in melanoma by tumor genomic profiling [LiteratureReference:9651946] High prevalence of MAP2K1 mutations in variant and IGHV4-34-expressing hairy-cell leukemias [LiteratureReference:9651951] Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations [LiteratureReference:6790420] Targeting RAS-ERK signalling in cancer: promises and challenges [LiteratureReference:6790423] The RASopathies [LiteratureReference:9651989] The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	MAP2K mutants constitutively phosphorylate MAPKs
output	2 × [SimpleEntity:R-ALL-29370] ADP [cytosol] [DefinedSet:R-HSA-169289] p-T,Y MAPKs [cytosol]
releaseDate	2020-06-10
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9686656] Gavathiotis, Evripidis, 2020-05-04
schemaClass	Reaction
species	[Species:48887] Homo sapiens
stId	R-HSA-9652165
summation	[Summation:9651911] Although they occur at much lower frequently than mutations ...

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[Pathway:R-HSA-9652169] Signaling by MAP2K mutants