SMAD4 Back

SMAD family member 4

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of SMAD4

This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to TGF-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.

Community Annotation of SMAD4 Add / Edit SMAD4: Annotations

No community annotations yet for SMAD4.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


SMAD4 is highly significantly mutated in
28 patients (12%)
combined cohort
79 patients (1%)
SMAD4 is significantly mutated in
SMAD4 is near significance in
Esophageal adenocarcinoma
10 patients (7%)
Lung adenocarcinoma
13 patients (3%)
Head and neck
7 patients (1%)

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for SMAD4