SMAD7
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, Jun 2010].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:602932 Ensembl IDEnsembl:ENSG00000101665 HGNC IDHGNC:HGNC:6773 PHARMGKB IDPA134875286 Map Location18q21.1 |
Gene Categories:
TRANSCRIPTION FACTOR COMPLEXGO terms in SMAD7
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Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | IDA | GO:0001650 | fibrillar center |
CC | IDA | GO:0005634 | nucleus |
CC | IDA | GO:0005654 | nucleoplasm |
CC | TAS | GO:0005654 | nucleoplasm |
CC | IEA | GO:0005667 | transcription factor complex |
CC | IDA | GO:0005737 | cytoplasm |
Gene expression in normal tissue: SMAD7
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SMAD7
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Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-162582 | Signal Transduction |
reactome | R-HSA-162582 | Signal Transduction |
reactome | R-HSA-170834 | Signaling by TGF-beta Receptor Complex |
reactome | R-HSA-170834 | Signaling by TGF-beta Receptor Complex |
reactome | R-HSA-201451 | Signaling by BMP |
reactome | R-HSA-212436 | Generic Transcription Pathway |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in SMAD7
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
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No matching records found |