Entrez gene ID | | 4092 |
Official gene symbol | | SMAD7 |
Full name | | SMAD family member 7 |
Aliases | | ,CRCS3,FLJ16482,MADH7,MADH8, |
Gene summary | | 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] |
Location | | Chromosome: 18 Locus: 18q21.1 |
Gene position | | 46477081 - 46446223 Map Viewer |
Gene orientation | | minus |
Gene size | | 30859 bp |
Gene sequence |
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OMIM ID | | 602932 |
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