Gene Gene information from NCBI Gene database.
Entrez ID 4092
Gene name SMAD family member 7
Gene symbol SMAD7
Synonyms (NCBI Gene)
CRCS3MADH7MADH8
Chromosome 18
Chromosome location 18q21.1
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 en
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs4939827 T>A,C Risk-factor Intron variant
miRNA miRNA information provided by mirtarbase database.
726
miRTarBase ID miRNA Experiments Reference
MIRT007153 hsa-miR-217 Luciferase reporter assay 23471579
MIRT007153 hsa-miR-217 Luciferase reporter assay 23471579
MIRT007154 hsa-miR-216a-5p Luciferase reporter assay 23471579
MIRT007242 hsa-miR-25-3p Luciferase reporter assay 23435373
MIRT007362 hsa-miR-21-5p qRT-PCRWestern blot 23292313
Transcription factors Transcription factors information provided by TRRUST V2 database.
9
Transcription factor Regulation Reference
FOS Activation 15579469
HDAC1 Unknown 24369345
JUN Activation 15579469
MTA1 Repression 22841502
SKIL Repression 23154975
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
97
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 17438144
GO:0000785 Component Chromatin ISA
GO:0001650 Component Fibrillar center IDA
GO:0001657 Process Ureteric bud development IEA
GO:0002725 Process Negative regulation of T cell cytokine production IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602932 6773 ENSG00000101665
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15105
Protein name Mothers against decapentaplegic homolog 7 (MAD homolog 7) (Mothers against DPP homolog 7) (Mothers against decapentaplegic homolog 8) (MAD homolog 8) (Mothers against DPP homolog 8) (SMAD family member 7) (SMAD 7) (Smad7) (hSMAD7)
Protein function Antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit TGF-beta (Transforming growth factor) and activin signaling by associating with their receptors thus preventing SMAD2
PDB 2DJY , 2KXQ , 2LTV , 2LTW , 2LTX , 2LTY , 2LTZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03165 MH1 92 202 MH1 domain Domain
PF03166 MH2 259 424 MH2 domain Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous with higher expression in the lung and vascular endothelium.
Sequence
Sequence length 426
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  TGF-beta signaling pathway
Hippo signaling pathway
  Signaling by BMP
Downregulation of TGF-beta receptor signaling
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
Ub-specific processing proteases
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
11
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colorectal cancer, susceptibility to, 3 risk factor; Uncertain significance rs4939827, rs778935609 RCV000007117
RCV003225778
Hereditary breast ovarian cancer syndrome Uncertain significance rs773511006 RCV001374531
SMAD7-related disorder Likely benign; Benign rs369794757, rs3764482, rs939657757, rs3736242, rs763219099, rs536465216, rs1180015903, rs145686330 RCV003981504
RCV003974443
RCV003906875
RCV003977307
RCV003911526
RCV003931508
RCV003946940
RCV003955904
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 25554686
Adenocarcinoma of Lung Associate 33628780
Adenoma Associate 21102417, 22999960
Altitude Sickness Associate 35875936
Alzheimer Disease Associate 35366391
Anodontia Associate 37833774
Arthritis Rheumatoid Associate 20628268
Atherosclerosis Associate 33282009
Autoimmune Diseases Associate 31968593
Bile Duct Diseases Stimulate 19878580