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]

  • Muscle contraction
  • Regulation of blood pressure
  • Response to virus
  • Positive regulation of gene expression
  • Vascular smooth muscle contraction
  • Multisystemic smooth muscle dysfunction syndrome
  • Aortic aneurysm, familial thoracic 6
  • Moyamoya disease 5
  • Aortic aneurysm, familial thoracic 2

ACTA2 Localizations – Subcellular Localization Database

Gene Location