ACTA2 Chromosome 10
Actin alpha 2, smooth muscle
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What This Gene Does
This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017]
Gene Info
Gene Group
Actins
Locus Type
gene with protein product
Location
10q23.31
Ensembl
ENSG00000107796
Associated Conditions (15)
Multisystemic smooth muscle dysfunction syndrome
Aortic aneurysm
familial thoracic 6
Familial thoracic aortic aneurysm and aortic dissection
Cardiovascular phenotype
ACTA2-related disorder
See cases
Familial aortopathy
Moyamoya disease 5
familial thoracic 2
Descending aortic dissection
alterations of great arteries and veins
Connective tissue disorder
Isolated thoracic aortic aneurysm
Thoracic aortic aneurysm or dissection
Key Variants
RS1053760032
Conflicting classifications of pathogenicity
Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6
Health Risk
RS1057521105
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 6, Aortic aneurysm
Health Risk
RS1057522870
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 6, Aortic aneurysm
Health Risk
RS1060500134
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1210919054
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1254836237
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1409629545
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6
Health Risk
RS1415012145
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6
Health Risk
RS149059995
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 6, Multisystemic smooth muscle dysfunction syndrome
Health Risk
RS1564641128
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6
Health Risk
RS1589394154
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS181698127
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
All Variants (61)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS387906592 | Health Risk | Pathogenic | Multisystemic smooth muscle dysfunction syndrome, Moyamoya disease 5, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515325 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 6, Aortic aneurysm |
| RS886039303 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 6, Familial aortopathy |
| RS121434527 | Health Risk | Pathogenic/Likely pathogenic | Aortic aneurysm, familial thoracic 6, Moyamoya disease 5 |
| RS397516685 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6 |
| RS746972765 | Health Risk | Pathogenic/Likely pathogenic | Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection |
| RS772862676 | Health Risk | Pathogenic/Likely pathogenic | Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection |
| RS794728021 | Health Risk | Pathogenic/Likely pathogenic | Aortic aneurysm, familial thoracic 6, Familial aortopathy |
| RS794728025 | Health Risk | Pathogenic/Likely pathogenic | Aortic aneurysm, familial thoracic 6, Aortic aneurysm |
| RS878854466 | Health Risk | Pathogenic/Likely pathogenic | Aortic aneurysm, familial thoracic 6, Aortic aneurysm |
| RS886038978 | Health Risk | Pathogenic/Likely pathogenic | Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection |