Aliases for SMAD7 Gene
External Ids for SMAD7 Gene
Previous HGNC Symbols for SMAD7 Gene
Previous GeneCards Identifiers for SMAD7 Gene
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. [provided by RefSeq, Jun 2010]
GeneCards Summary for SMAD7 Gene
SMAD7 (SMAD Family Member 7) is a Protein Coding gene. Diseases associated with SMAD7 include Colorectal Cancer 3 and Fibrodysplasia Ossificans Progressiva. Among its related pathways are Gene Expression and TGF-beta signaling pathway (KEGG). GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription regulatory region DNA binding. An important paralog of this gene is SMAD1.
UniProtKB/Swiss-Prot for SMAD7 Gene
Antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit TGF-beta (Transforming growth factor) and activin signaling by associating with their receptors thus preventing SMAD2 access. Functions as an adapter to recruit SMURF2 to the TGF-beta receptor complex. Also acts by recruiting the PPP1R15A-PP1 complex to TGFBR1, which promotes its dephosphorylation. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator (By similarity).