SHOC2 M1731 mutant abolishes MRAS complex function

Stable Identifier
R-HSA-9726840
Type
Pathway
Species
Homo sapiens
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This pathway describes the effect of a loss-of-function mutation in SHOC2 on RAF activation (Rodriguez-Viciano et al, 2006; Hannig et al, 2014). How both loss- and gain-of-function SHOC2 mutants can contribute to RAF pathway activation remains to be elucidated.

Literature References
PubMed ID Title Journal Year
25137548 A Novel SHOC2 Variant in Rasopathy

Hannig, V, Galperin, E, Phillips, JA, Jeoung, M, Jang, ER

Hum. Mutat. 2014
16630891 A phosphatase holoenzyme comprised of Shoc2/Sur8 and the catalytic subunit of PP1 functions as an M-Ras effector to modulate Raf activity

McCormick, F, Fried, M, Burlingame, A, Oses-Prieto, J, Rodriguez-Viciana, P

Mol. Cell 2006
Participants
Participates
Disease
Name Identifier Synonyms
Noonan syndrome DOID:3490 Turner's phenotype, karyotype normal (disorder)
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