SMAD3 Chromosome 15
SMAD family member 3
Upload your DNA to see your personal genotypes for variants in SMAD3.
What This Gene Does
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 growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. This protein forms a complex with other SMAD proteins and binds DNA, functioning both as a transcription factor and tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3. [provided by RefSeq, May 2022]
Gene Info
Gene Group
SMAD family
Locus Type
gene with protein product
Location
15q22.33
Ensembl
ENSG00000166949
Associated Conditions (22)
Familial thoracic aortic aneurysm and aortic dissection
Aneurysm-osteoarthritis syndrome
Neoplasm
Ehlers-Danlos syndrome
SMAD3-related disorder
Cardiovascular phenotype
See cases
Connective tissue disorder
Gastric cancer
Loeys-Dietz syndrome
Arterial dissection
Cutaneous polyarteritis nodosa
Familial aortopathy
Isolated thoracic aortic aneurysm
Idiopathic spontaneous coronary artery dissection
Ascending aortic dissection
Thoracic aortic aneurysm or dissection
Vascular dilatation
Aortic aneurysm
familial thoracic
+2 more conditions
Key Variants
RS1057524127
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1060500766
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Neoplasm, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1060500771
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1085307496
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1157725695
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1179340088
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1242358787
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1299517586
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1313114326
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
Health Risk
RS1317532064
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, Aneurysm-osteoarthritis syndrome
Health Risk
RS1343295267
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, SMAD3-related disorder, Aneurysm-osteoarthritis syndrome
Health Risk
RS1350129614
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
All Variants (218)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2140323368 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2140323765 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2504999773 | Health Risk | Pathogenic/Likely pathogenic | Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome |
| RS2505284032 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome, Loeys-Dietz syndrome |
| RS2505311128 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS387906850 | Health Risk | Pathogenic/Likely pathogenic | Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome |
| RS387906854 | Health Risk | Pathogenic/Likely pathogenic | Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome |
| RS587782977 | Health Risk | Pathogenic/Likely pathogenic | Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome |
| RS730880214 | Health Risk | Pathogenic/Likely pathogenic | Loeys-Dietz syndrome, Connective tissue disorder, Aneurysm-osteoarthritis syndrome |
| RS753486471 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS768713596 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS794727798 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS863223737 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS863223740 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, SMAD3-related disorder, Familial thoracic aortic aneurysm and aortic dissection |
| RS863223756 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS863223757 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS863223768 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS387906853 | Health Risk | risk factor | Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection, Congenital aneurysm of ascending aorta |