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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACTA2
actin alpha 2, smooth muscle
Chromosome 10 · 10q23.31
NCBI Gene: 59Ensembl: ENSG00000107796.14HGNC: HGNC:130UniProt: A0AAQ5BGG7
316PubMed Papers
23Diseases
0Drugs
39Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmGO:0005615glomerular mesangial cell developmentprotein-containing complexaortic aneurysm, familial thoracic 6multisystemic smooth muscle dysfunction syndromeMoyamoya disease 5familial thoracic aortic aneurysm and aortic dissection
✦AI Summary

ACTA2 encodes α-smooth muscle actin, a critical contractile protein expressed in vascular smooth muscle cells that mediates vascular motility and contraction 1. Beyond vascular tissue, ACTA2 serves as a molecular marker for myofibroblast differentiation, where its expression in stress fibers represents an advanced functional activation state 2. During fibrotic processes, ACTA2+ cells arise from multiple sources including smooth muscle cells, endothelial cells undergoing endothelial-to-mesenchymal transition, and macrophages, with their differentiation regulated by transforming growth factor-β and platelet-derived growth factor signaling 34. Pathogenic ACTA2 variants cause multisystemic smooth muscle dysfunction syndrome, accounting for approximately 20% of familial thoracic aortic aneurysms with high dissection risk 5. Mutations induce a pathogenic phenotypic switch in smooth muscle cells from contractile to synthetic states, characterized by increased proliferation and dysregulated gene expression 6. ACTA2-associated vasculopathies manifest as diverse conditions including thoracic aortic aneurysms, dissections, premature coronary artery disease, ischemic stroke, and distinctive cerebral arteriopathy features 17. Clinically, ACTA2 mutations represent severe genetic causes of early-onset aortic disease with high mortality risk. Recent proof-of-concept studies demonstrate that CRISPR-adenine base editing can correct pathogenic ACTA2 variants, restore normal smooth muscle function, and prevent aortic dilation in preclinical models 6, suggesting potential gene-editing therapeutic approaches.

Sources cited
1
ACTA2 encodes α-smooth muscle actin expressed in vascular smooth muscle cells; mutations cause thoracic aortic aneurysms, dissections, premature coronary artery disease, and ischemic stroke
PMID: 26934405
2
α-smooth muscle actin marks myofibroblast cells; TGF-β1 induces cardiac fibroblast-to-myofibroblast transformation
PMID: 29987445
3
α-SMA expression in stress fibers is the most widely used molecular marker for myofibroblast identification and represents an advanced functional activation stage
PMID: 34028733
4
ACTA2+ myofibroblast-like cells in atherosclerotic lesions originate from multiple sources including smooth muscle cells, endothelial cells, and macrophages; differentiation involves TGF-β, PDGF, and IL-1β signaling
PMID: 33619382
5
Pathogenic ACTA2 variants cause marked vascular smooth muscle cell expansion with upregulation of proliferation-associated transcripts and medial hypercellularity in thoracic aortic aneurysms
PMID: 41021763
6
ACTA2 mutations cause multisystemic smooth muscle dysfunction syndrome with distinctive cerebral arteriopathy featuring aberrant internal carotid circulation and dolichoectasia
PMID: 30300893
7
The ACTA2 R179H variant causes pathogenic phenotypic switch from contractile to synthetic smooth muscle state; CRISPR-adenine base editing corrects this variant and rescues aortic dilation and dissection in mice
PMID: 40378078
Disease Associationsⓘ23
aortic aneurysm, familial thoracic 6Open Targets
0.81Strong
multisystemic smooth muscle dysfunction syndromeOpen Targets
0.79Strong
Moyamoya disease 5Open Targets
0.76Strong
familial thoracic aortic aneurysm and aortic dissectionOpen Targets
0.66Moderate
Rare disease with thoracic aortic aneurysm and aortic dissectionOpen Targets
0.66Moderate
thoracic aortic aneurysmOpen Targets
0.60Moderate
Rare genetic vascular diseaseOpen Targets
0.55Moderate
lymphoid leukemiaOpen Targets
0.50Moderate
Abnormality of the cardiovascular systemOpen Targets
0.49Moderate
chronic lymphocytic leukemiaOpen Targets
0.47Moderate
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.46Moderate
Moyamoya diseaseOpen Targets
0.42Moderate
autoimmune lymphoproliferative syndrome type 1Open Targets
0.37Weak
connective tissue diseaseOpen Targets
0.36Weak
Marfan syndromeOpen Targets
0.34Weak
Descending aortic dissectionOpen Targets
0.34Weak
Crohn's diseaseOpen Targets
0.31Weak
ankylosing spondylitisOpen Targets
0.31Weak
ulcerative colitisOpen Targets
0.31Weak
psoriasisOpen Targets
0.30Weak
Aortic aneurysm, familial thoracic 6UniProt
Moyamoya disease 5UniProt
Smooth muscle dysfunction syndromeUniProt
Pathogenic Variants39
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys)Pathogenic
not provided|Aortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|Thoracic aortic aneurysm or dissection
★★☆☆2026→ Residue 198
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln)Pathogenic
not provided|Aortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 6;Moyamoya disease 5;Multisystemic smooth muscle dysfunction syndrome
★★☆☆2026→ Residue 118
NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys)Pathogenic
Aortic aneurysm, familial thoracic 6|Moyamoya disease 5|not provided|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2025→ Residue 258
NM_001613.4(ACTA2):c.138G>T (p.Met46Ile)Pathogenic
Aortic aneurysm, familial thoracic 6|not provided
★★☆☆2025→ Residue 46
NM_001613.4(ACTA2):c.116G>A (p.Arg39His)Pathogenic
not provided|Aortic aneurysm, familial thoracic 6|Familial aortopathy|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2025→ Residue 39
NM_001613.4(ACTA2):c.773G>A (p.Arg258His)Pathogenic
Aortic aneurysm, familial thoracic 6|Moyamoya disease 5|not provided|Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype
★★☆☆2025→ Residue 258
NM_001613.4(ACTA2):c.536G>A (p.Arg179His)Pathogenic
Multisystemic smooth muscle dysfunction syndrome|Moyamoya disease 5|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 6|not provided|alterations of great arteries and veins;Connective tissue disorder|Multisystemic smooth muscle dysfunction syndrome;Moyamoya disease 5;Aortic aneurysm, familial thoracic 6|ACTA2-related disorder|Multisystemic smooth muscle dysfunction syndrome;Aortic aneurysm, familial thoracic 6
★★☆☆2025→ Residue 179
NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys)Pathogenic
Aortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 2|not provided|Cardiovascular phenotype
★★☆☆2025→ Residue 149
NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys)Pathogenic
not provided|Aortic aneurysm, familial thoracic 6|Familial aortopathy|Multisystemic smooth muscle dysfunction syndrome|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2025→ Residue 179
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln)Pathogenic
not provided|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 6|ACTA2-related disorder|Isolated thoracic aortic aneurysm
★★☆☆2025→ Residue 212
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys)Pathogenic
Aortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|not provided|Familial aortopathy|ACTA2-related disorder|Multisystemic smooth muscle dysfunction syndrome;Aortic aneurysm, familial thoracic 6;Moyamoya disease 5|See cases
★★☆☆2025→ Residue 39
NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly)Pathogenic
Aortic aneurysm, familial thoracic 6|not provided|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2025→ Residue 39
NM_001613.4(ACTA2):c.940C>T (p.Arg314Ter)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 6
★★☆☆2024→ Residue 314
NM_001613.4(ACTA2):c.146T>C (p.Met49Thr)Likely pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 6
★★☆☆2023→ Residue 49
NM_001613.4(ACTA2):c.593G>A (p.Arg198His)Pathogenic
Aortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|not provided|Multisystemic smooth muscle dysfunction syndrome;Aortic aneurysm, familial thoracic 6;Moyamoya disease 5
★★☆☆2023→ Residue 198
NM_001613.4(ACTA2):c.446G>T (p.Arg149Leu)Pathogenic
not provided|Aortic aneurysm, familial thoracic 6
★★☆☆2023→ Residue 149
NM_001613.4(ACTA2):c.133G>C (p.Val45Leu)Pathogenic
Aortic aneurysm, familial thoracic 6
★☆☆☆2026→ Residue 45
NM_001613.4(ACTA2):c.1076T>G (p.Ile359Ser)Likely pathogenic
not provided
★☆☆☆2025→ Residue 359
NM_001613.4(ACTA2):c.941G>A (p.Arg314Gln)Pathogenic
Aortic aneurysm, familial thoracic 6
★☆☆☆2025→ Residue 314
NM_001613.4(ACTA2):c.130-2delLikely pathogenic
Cardiovascular phenotype
★☆☆☆2025
View on ClinVar ↗
Related Genes
MYL6Protein interaction100%MYL12BProtein interaction100%MYL9Protein interaction99%SMAD3Protein interaction99%MYH10Protein interaction99%MYL6BProtein interaction97%
Tissue Expression6 tissues
Lung
100%
Ovary
82%
Heart
52%
Liver
20%
Brain
12%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
ACTA2MYL6MYL12BMYL9SMAD3MYH10MYL6B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P62736
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.47Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.29 [0.18–0.47]
RankingsWhere ACTA2 stands among ~20K protein-coding genes
  • #1,067of 20,598
    Most Researched316 · top 10%
  • #1,558of 5,498
    Most Pathogenic Variants39
  • #2,714of 17,882
    Most Constrained (LOEUF)0.47 · top quartile
Genes detectedACTA2
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
α-Smooth Muscle Actin and ACTA2 Gene Expressions in Vasculopathies.
PMID: 26934405
Braz J Cardiovasc Surg · 2015
1.00
2
Biomarkers for the identification of cardiac fibroblast and myofibroblast cells.
PMID: 29987445
Heart Fail Rev · 2019
0.90
3
Myofibroblast Markers and Microscopy Detection Methods in Cell Culture and Histology.
PMID: 34028733
Methods Mol Biol · 2021
0.80
4
PlaqOmics Leducq Fondation Trans-Atlantic Network.
PMID: 31021730
Circ Res · 2019
0.72
5
Multiple stromal populations contribute to pulmonary fibrosis without evidence for epithelial to mesenchymal transition.
PMID: 22123957
Proc Natl Acad Sci U S A · 2011
0.70