Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4088
Gene name Gene Name - the full gene name approved by the HGNC.
SMAD family member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMAD3
Synonyms (NCBI Gene) Gene synonyms aliases
HSPC193, HsT17436, JV15-2, LDS1C, LDS3, MADH3, hMAD-3, hSMAD3, mad3
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q22.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
ARID1A Unknown 21900401
TP53 Unknown 21900401
TRIB3 Unknown 21896644
WT1 Activation 20842112
WWTR1 Activation 22470139
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603109 6769 ENSG00000166949
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Aneurysm-Osteoarthritis Syndrome aneurysm-osteoarthritis syndrome rs757106110, rs587782977, rs1963050712, rs387906851, rs745672741, rs587776881, rs1595956832, rs1595941653, rs730880214, rs387906852, rs1595941823, rs1567005489, rs387906853, rs1595956416, rs1595956538
View all (8 more)
N/A
Connective Tissue Disease Connective tissue disorder rs730880214, rs745672741 N/A
Ehlers-Danlos Syndrome ehlers-danlos syndrome rs387906850 N/A
Loeys-Dietz Syndrome loeys-dietz syndrome rs730880214, rs1595960447, rs587782977, rs770098673 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Pediatric asthma, Asthma, Asthma onset (childhood vs adult), Asthma in any disease, Asthma (childhood onset), Asthma (moderate or severe), Nonatopic asthma, Atopic asthma, Asthma (adult onset) N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Carcinoma Basal cell carcinoma N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Associations from Text Mining Disease 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