Gene Gene information from NCBI Gene database.
Entrez ID 4088
Gene name SMAD family member 3
Gene symbol SMAD3
Synonyms (NCBI Gene)
HSPC193HsT17436JV15-2LDS1CLDS3MADH3hMAD-3hSMAD3mad3
Chromosome 15
Chromosome location 15q22.33
Summary The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene `mothers against decapentaplegic` (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming gr
SNPs SNP information provided by dbSNP.
77
SNP ID Visualize variation Clinical significance Consequence
rs139616052 G>A Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, synonymous variant
rs201263330 G>C,T Likely-pathogenic Coding sequence variant, missense variant
rs201912204 G>A Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign Upstream transcript variant, intron variant, genic upstream transcript variant
rs202094530 G>A Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant
rs387906850 C>T Likely-pathogenic, pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
621
miRTarBase ID miRNA Experiments Reference
MIRT007291 hsa-miR-200a-3p Luciferase reporter assay 22020340
MIRT007291 hsa-miR-200a-3p Luciferase reporter assay 22020340
MIRT007323 hsa-miR-18a-5p Western blot 23249750
MIRT018567 hsa-miR-335-5p Microarray 18185580
MIRT020918 hsa-miR-155-5p Western blot 21036908
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
ARID1A Unknown 21900401
TP53 Unknown 21900401
TRIB3 Unknown 21896644
WT1 Activation 20842112
WWTR1 Activation 22470139
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
205
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 8774881, 28467929
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 14555988
GO:0000165 Process MAPK cascade IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603109 6769 ENSG00000166949
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P84022
Protein name Mothers against decapentaplegic homolog 3 (MAD homolog 3) (Mad3) (Mothers against DPP homolog 3) (hMAD-3) (JV15-2) (SMAD family member 3) (SMAD 3) (Smad3) (hSMAD3)
Protein function Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of man
PDB 1MHD , 1MJS , 1MK2 , 1OZJ , 1U7F , 2LAJ , 2LB2 , 5OD6 , 5ODG , 5XOC , 6YIB , 6ZMN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03165 MH1 31 131 MH1 domain Domain
PF03166 MH2 230 401 MH2 domain Family
Sequence
Sequence length 425
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  FoxO signaling pathway
Cell cycle
Endocytosis
Cellular senescence
Wnt signaling pathway
TGF-beta signaling pathway
Apelin signaling pathway
Hippo signaling pathway
Adherens junction
Signaling pathways regulating pluripotency of stem cells
Th17 cell differentiation
AGE-RAGE signaling pathway in diabetic complications
Hepatitis B
Human T-cell leukemia virus 1 infection
Pathways in cancer
Colorectal cancer
Pancreatic cancer
Chronic myeloid leukemia
Hepatocellular carcinoma
Gastric cancer
Inflammatory bowel disease
Diabetic cardiomyopathy
  Signaling by NODAL
Signaling by Activin
Downregulation of TGF-beta receptor signaling
TGF-beta receptor signaling activates SMADs
Downregulation of SMAD2/3:SMAD4 transcriptional activity
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
SMAD2/3 Phosphorylation Motif Mutants in Cancer
SMAD4 MH2 Domain Mutants in Cancer
SMAD2/3 MH2 Domain Mutants in Cancer
TGFBR1 KD Mutants in Cancer
Ub-specific processing proteases
RUNX3 regulates CDKN1A transcription
RUNX3 regulates BCL2L11 (BIM) transcription
Interleukin-37 signaling
FOXO-mediated transcription of cell cycle genes
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1427
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aneurysm-osteoarthritis syndrome Likely pathogenic; Pathogenic rs2140188685, rs2140294805, rs2140314299, rs2140323765, rs587782977, rs2140319954, rs730880214, rs768713596, rs745672741, rs2505213278, rs886041046, rs2505282958, rs2140188838, rs2505284032, rs2505239545
View all (26 more)
RCV001799526
RCV001802457
RCV001814708
RCV005412340
RCV002470771
RCV002289402
RCV001198563
RCV005625435
RCV002492898
RCV003140575
RCV000258815
RCV003485904
RCV003485905
RCV004805028
RCV004013691
RCV004016898
RCV004015932
RCV004594823
RCV004594829
RCV000023241
RCV000023242
RCV000023243
RCV000023244
RCV000023245
RCV000023246
RCV000023247
RCV000023248
RCV000023250
RCV004802062
RCV005415437
RCV000767867
RCV004594235
RCV000993700
RCV000993702
RCV000993704
RCV000993699
RCV000993703
RCV000993705
RCV000989349
RCV001034617
RCV001195952
RCV001253003
Aortic aneurysm Pathogenic rs1555405092 RCV001526579
Ascending aortic dissection Pathogenic rs1595956832 RCV001027517
Cardiovascular phenotype Likely pathogenic rs886038770 RCV000247435
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aortic aneurysm, familial thoracic 6 Uncertain significance rs1963252361 RCV001256789
Arterial dissection Conflicting classifications of pathogenicity rs730880216 RCV000157503
Cervical cancer Uncertain significance rs730880215 RCV005888558
Congenital aneurysm of ascending aorta Likely benign; risk factor rs747307840, rs387906853 RCV003229101
RCV000664466
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abidi X linked mental retardation syndrome Associate 28737528
Abortion Habitual Associate 34030553
Abortion Spontaneous Associate 34030553
Acute Aortic Syndrome Associate 21778426
Acute Coronary Syndrome Associate 29115576
Acute Kidney Injury Associate 34795878
Adenocarcinoma Inhibit 15016321
Adenocarcinoma Associate 17264880
Adenocarcinoma of Lung Associate 24928833, 25816405, 28115165, 35982471, 36861928
Adenomyosis Associate 29253010