Homo sapiens Gene: SMAD7
InnateDB Gene IDBG-3195.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SMAD7
Gene Name SMAD family member 7
Synonyms CRCS3; MADH7; MADH8
Species Homo sapiens
Ensembl Gene ENSG00000101665
Encoded Proteins
SMAD family member 7
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Inhibitory SMAD7, a direct target gene for transforming growth factor-beta (TGF-beta), mediates TGF-beta1-induced apoptosis in several cell types and acts as a scaffolding protein to facilitate TAK1- and MKK3-mediated activation of p38.
SMAD7 acts as a critical mediator for effective TGF-beta1-mediated suppression of IL-1R/TLR signalling, by simultaneous binding to discrete regions of Pellino-1.
Entrez 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, Jun 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:48919853-48950711
Strand Reverse strand
Band q21.1
ENST00000262158 ENSP00000262158
ENST00000591805 ENSP00000466902
ENST00000586093 ENSP00000465590
ENST00000589634 ENSP00000467621
Number of Interactions This gene and/or its encoded proteins are associated with 161 experimentally validated interaction(s) in this database.
They are also associated with 26 interaction(s) predicted by orthology.
Experimentally validated
Total 161 [view]
Protein-Protein 144 [view]
Protein-DNA 9 [view]
Protein-RNA 0
DNA-DNA 8 [view]
Predicted by orthology
Total 26 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0005518 collagen binding
GO:0008013 beta-catenin binding
GO:0030617 transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity
GO:0031625 ubiquitin protein ligase binding
GO:0034713 type I transforming growth factor beta receptor binding
GO:0044212 transcription regulatory region DNA binding
GO:0046872 metal ion binding
GO:0048185 activin binding
GO:0070411 I-SMAD binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001657 ureteric bud development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0010467 gene expression
GO:0010719 negative regulation of epithelial to mesenchymal transition
GO:0010801 negative regulation of peptidyl-threonine phosphorylation
GO:0010944 negative regulation of transcription by competitive promoter binding
GO:0017015 regulation of transforming growth factor beta receptor signaling pathway
GO:0022409 positive regulation of cell-cell adhesion
GO:0030336 negative regulation of cell migration
GO:0030509 BMP signaling pathway
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0030514 negative regulation of BMP signaling pathway
GO:0031397 negative regulation of protein ubiquitination
GO:0031398 positive regulation of protein ubiquitination
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0032925 regulation of activin receptor signaling pathway
GO:0033137 negative regulation of peptidyl-serine phosphorylation
GO:0034333 adherens junction assembly
GO:0034616 response to laminar fluid shear stress
GO:0034629 cellular protein complex localization
GO:0035556 intracellular signal transduction
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045087 innate immune response (InnateDB)
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048844 artery morphogenesis
GO:0050821 protein stabilization
GO:0051444 negative regulation of ubiquitin-protein transferase activity
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0055117 regulation of cardiac muscle contraction
GO:0060373 regulation of ventricular cardiac muscle cell membrane depolarization
GO:0060389 pathway-restricted SMAD protein phosphorylation
GO:0060394 negative regulation of pathway-restricted SMAD protein phosphorylation
GO:0060412 ventricular septum morphogenesis
GO:0071560 cellular response to transforming growth factor beta stimulus
Cellular Component
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005913 cell-cell adherens junction
GO:0016342 catenin complex
GO:0043234 protein complex
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
TGF_beta_Receptor pathway
Downregulation of TGF-beta receptor signaling pathway
TGF-beta receptor signaling activates SMADs pathway
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription pathway
Signaling by BMP pathway
Generic Transcription Pathway pathway
SMAD4 MH2 Domain Mutants in Cancer pathway
Loss of Function of SMAD4 in Cancer pathway
Loss of Function of SMAD2/3 in Cancer pathway
Signaling by TGF-beta Receptor Complex in Cancer pathway
TGFBR2 MSI Frameshift Mutants in Cancer pathway
Signal Transduction pathway
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer pathway
SMAD2/3 MH2 Domain Mutants in Cancer pathway
Loss of Function of TGFBR2 in Cancer pathway
SMAD2/3 Phosphorylation Motif Mutants in Cancer pathway
TGFBR1 KD Mutants in Cancer pathway
Loss of Function of TGFBR1 in Cancer pathway
TGFBR1 LBD Mutants in Cancer pathway
TGFBR2 Kinase Domain Mutants in Cancer pathway
Gene Expression pathway
Disease pathway
Signaling by TGF-beta Receptor Complex pathway
TGF-beta signaling pathway pathway
Endocytosis pathway
TGF-beta signaling pathway
BMP2 signaling pathway
BMP receptor signaling
ALK1 signaling events
Signaling events mediated by HDAC Class I
Regulation of nuclear SMAD2/3 signaling
TGF-beta receptor signaling
IFN-gamma pathway
UniProt Splice Variant
Entrez Gene
UniGene Hs.465087
RefSeq NM_001190821 NM_001190822 NM_005904
CCDS CCDS11936 CCDS54186 CCDS59317
HPRD 04241
RNA Seq Atlas