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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
44
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 18041647
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 28732737
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 25501921
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 24659668
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 15922743
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 17934461, 18372901, 21761138, 23266556, 24448986, 24836286, 25990418, 26151821, 26965516, 27207650, 29228715, 29471430, 29917119, 30104761, 30510241
View all (2 more)
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma GWASCAT_DG 30510241
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 28732737
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 20514018
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis BEFREE 15885643
★☆☆☆☆
Found in Text Mining only