SMAD7 Chromosome 18
SMAD family member 7
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What This Gene Does
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]
Gene Info
Gene Group
SMAD family
Locus Type
gene with protein product
Location
18q21.1
Ensembl
ENSG00000101665
Associated Conditions (3)
Colorectal cancer
susceptibility to
3
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS4939827 | Health Risk | risk factor | Colorectal cancer, susceptibility to, 3 |