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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| SMAD family member 7 | MIM:602932 | Ensembl:ENSG00000101665 | HGNC:HGNC:6773 | PA134875286 | 18q21.1 |
Gene Categories:
TRANSCRIPTION FACTOR COMPLEXGO terms in SMAD7
| 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 |
| CC | IDA | GO:0005813 | centrosome |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005913 | cell-cell adherens junction |
| CC | IDA | GO:0016342 | catenin complex |
| CC | IDA | GO:0032991 | protein-containing complex |
| BP | IDA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0001657 | ureteric bud development |
| BP | ISS | GO:0002725 | negative regulation of T cell cytokine production |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IEA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IMP | GO:0010717 | regulation of epithelial to mesenchymal transition |
| BP | IC | GO:0010719 | negative regulation of epithelial to mesenchymal transition |
| BP | TAS | GO:0010719 | negative regulation of epithelial to mesenchymal transition |
| BP | IDA | GO:0010801 | negative regulation of peptidyl-threonine phosphorylation |
| BP | IDA | GO:0010944 | negative regulation of transcription by competitive promoter binding |
| BP | TAS | GO:0016579 | protein deubiquitination |
| BP | IC | GO:0017015 | regulation of transforming growth factor beta receptor signaling pathway |
| BP | IDA | GO:0022409 | positive regulation of cell-cell adhesion |
| BP | TAS | GO:0030336 | negative regulation of cell migration |
| BP | TAS | GO:0030509 | BMP signaling pathway |
| BP | IDA | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway |
| BP | TAS | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway |
| BP | IDA | GO:0030514 | negative regulation of BMP signaling pathway |
| BP | IDA | GO:0031397 | negative regulation of protein ubiquitination |
| BP | IDA | GO:0031398 | positive regulation of protein ubiquitination |
| BP | IDA | GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process |
| BP | IDA | GO:0032925 | regulation of activin receptor signaling pathway |
| BP | IDA | GO:0033137 | negative regulation of peptidyl-serine phosphorylation |
| BP | IMP | GO:0034333 | adherens junction assembly |
| BP | IEP | GO:0034616 | response to laminar fluid shear stress |
| BP | IDA | GO:0034629 | cellular protein-containing complex localization |
| BP | IDA | GO:0043433 | negative regulation of DNA-binding transcription factor activity |
| BP | TAS | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | ISS | GO:0048844 | artery morphogenesis |
| BP | IDA | GO:0050821 | protein stabilization |
| BP | IDA | GO:0051444 | negative regulation of ubiquitin-protein transferase activity |
| BP | ISS | GO:0055010 | ventricular cardiac muscle tissue morphogenesis |
| BP | ISS | GO:0055117 | regulation of cardiac muscle contraction |
| BP | IC | GO:0060373 | regulation of ventricular cardiac muscle cell membrane depolarization |
| BP | ISS | GO:0060389 | pathway-restricted SMAD protein phosphorylation |
| BP | IDA | GO:0060394 | negative regulation of pathway-restricted SMAD protein phosphorylation |
| BP | TAS | GO:0060394 | negative regulation of pathway-restricted SMAD protein phosphorylation |
| BP | ISS | GO:0060412 | ventricular septum morphogenesis |
| BP | IMP | GO:0071560 | cellular response to transforming growth factor beta stimulus |
| BP | IEA | GO:1990830 | cellular response to leukemia inhibitory factor |
| BP | ISS | GO:2000317 | negative regulation of T-helper 17 type immune response |
| BP | ISS | GO:2000320 | negative regulation of T-helper 17 cell differentiation |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005518 | collagen binding |
| MF | IPI | GO:0008013 | beta-catenin binding |
| MF | IDA | GO:0030617 | transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity |
| MF | IPI | GO:0031625 | ubiquitin protein ligase binding |
| MF | IPI | GO:0034713 | type I transforming growth factor beta receptor binding |
| MF | IDA | GO:0044212 | transcription regulatory region DNA binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IPI | GO:0048185 | activin binding |
| MF | IPI | GO:0070411 | I-SMAD binding |
Gene expression in normal tissue: SMAD7
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SMAD7
| 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 |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-2173788 | Downregulation of TGF-beta receptor signaling |
| reactome | R-HSA-2173788 | Downregulation of TGF-beta receptor signaling |
| reactome | R-HSA-2173789 | TGF-beta receptor signaling activates SMADs |
| reactome | R-HSA-2173789 | TGF-beta receptor signaling activates SMADs |
| reactome | R-HSA-2173793 | Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer |
| reactome | R-HSA-2173793 | Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer |
| reactome | R-HSA-2173796 | SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription |
| reactome | R-HSA-2173796 | SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-5688426 | Deubiquitination |
| reactome | R-HSA-5688426 | Deubiquitination |
| reactome | R-HSA-5689603 | UCH proteinases |
| reactome | R-HSA-5689880 | Ub-specific processing proteases |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
| biocarta | tgfbpathway | tgf beta signaling pathway |
| pid | alk1pathway | ALK1 signaling events |
| pid | bmppathway | BMP receptor signaling |
| pid | hdac_classi_pathway | Signaling events mediated by HDAC Class I |
| pid | ifngpathway | IFN-gamma pathway |
| pid | smad2_3nuclearpathway | Regulation of nuclear SMAD2/3 signaling |
| pid | tgfbrpathway | TGF-beta receptor signaling |
| kegg | hsa04350 | TGF-beta signaling pathway - Homo sapiens (human) |
| kegg | hsa04390 | Hippo signaling pathway - Homo sapiens (human) |
| netpath | Pathway_TGF_beta_Receptor | TGF_beta_Receptor |
| humancyc | PWY66-11 | BMP Signalling Pathway |
| wikipathways | WP2755 | Transcriptional activity of SMAD2-SMAD3-SMAD4 heterotrimer |
| wikipathways | WP2864 | Apoptosis-related network due to altered Notch3 in ovarian cancer |
| wikipathways | WP3624 | Lung fibrosis |
| wikipathways | WP366 | TGF-beta Signaling Pathway |
| wikipathways | WP3924 | Hfe effect on hepcidin production |
| wikipathways | WP3931 | ESC Pluripotency Pathways |
| wikipathways | WP3980 | Protein alkylation leading to liver fibrosis |
| wikipathways | WP560 | TGF-beta Receptor Signaling |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD280 | CYTOCHALASIN B | 5 |
| iGMDRD147 | Prima-1 | 1 |
| iGMDRD506 | Fedratinib | 1 |
| iGMDRD398 | Sepantronium | 3 |
| iGMDRD887 | Compound 23 citrate | 2 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD512 | nutlin 3 | 3 |
| iGMDRD772 | BRD4770 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SMAD7
CLASSFICATION
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