SMAD7 Back

SMAD family member 7

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NCBI Description of SMAD7

The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene.

Community Annotation of SMAD7 Add / Edit SMAD7: Annotations

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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).


Legend

SMAD7 is highly significantly mutated in
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SMAD7 is significantly mutated in
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SMAD7 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for SMAD7