ACTA2

Gene Information
 
Gene Symbol
ACTA2
 
Aliases
ACTSA
 
Entrez Gene ID
59
 
Gene Name
Actin alpha 2, smooth muscle
 
Chromosomal Location
10q23.31
 
HGNC ID
 
Summary
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]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0009615 Biological process Response to virus IEP 16548883
GO:0014829 Biological process Vascular smooth muscle contraction IBA 21873635
GO:0072144 Biological process Glomerular mesangial cell development IEP 17464107
GO:0005615 Cellular component Extracellular space HDA 23580065
GO:0005737 Cellular component Cytoplasm IBA 21873635
Protein Information
 
Protein Name
Actin, aortic smooth muscle, actin, alpha 2, smooth muscle, aorta, alpha-cardiac actin, cell growth-inhibiting gene 46 protein
 
Function
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells
 
Refseq Proteins
 
UniProt
 
Pfam
Pfam Accession Pfam ID
PF00022 Actin
Pathways
 
KEGG
 
Reactome
 

Vascular smooth muscle contraction
Apelin signaling pathway
Relaxin signaling pathway

  

Smooth Muscle Contraction
NOTCH4 Intracellular Domain Regulates Transcription
Interactions
 
STRING MINT IntAct
ENSP00000284984 Q9UHI8
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Aortic Aneurysm
Myocardial Infarction
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Multisystemic Smooth Muscle Dysfunction Syndrome
Ehlers-Danlos Syndrome
Marfan Syndrome
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
CYP11A 
PCOS 
 
  
Direct 
 
  
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