Reactome: A Curated Pathway Database

Phosphorylated SMAD2/3 MH2 Domain Mutants do not bind SMAD4 (R-HSA-3315483)

Species Homo sapiens

Summation

Phosphorylated SMAD2 and SMAD3 MH2 domain mutants cannot form heterotrimers with SMAD4 (Fleming et al. 2013), leading to the loss of TGF-beta-induced regulation of gene expression and aberrant cell differentiation and proliferation.

SMAD2 MH2 domain mutants SMAD2 A354T, SMAD2 D300A, SMAD2 D300N and SMAD2 P305L, as well as SMAD3 MH2 domain mutants SMAD3 D258N and SMAD3 R268C are annotated as characterized mutant set members based on structural and/or functional studies (Fleming et al. 2013). SMAD2 mutants SMAD2 D300V and SMAD2 P305Q, and SMAD3 mutant SMAD2 R268C are annotated as candidate members of the mutant set, based on sequence similarity with characterized mutants.

Locations in the PathwayBrowser
Additional Information
Compartment cytosol
Diseases
Name Identifier Synonyms
cancer 162 [malignant tumor, malignant neoplasm, primary cancer]
Literature References
pubMedId Title Journal Year
23139211 SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer Cancer Res. 2013