Protein-coding gene in the species Homo sapiens
ACTA2 (actin alpha 2) is an actin protein with several aliases including alpha-actin, alpha-actin-2, aortic smooth muscle or alpha smooth muscle actin (α-SMA, SMactin, alpha-SM-actin, ASMA). Actins are a family of globular multi-functional proteins that form microfilaments . ACTA2 is one of 6 different actin isoforms and is involved in the contractile apparatus of smooth muscle . ACTA2 (as with all the actins) is extremely highly conserved and found in nearly all mammals.
In humans, ACTA2 is encoded by the ACTA2 gene located on 10q22-q24.[ 5] [ 6] Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease , coronary artery disease , stroke , Moyamoya disease , and multisystemic smooth muscle dysfunction syndrome .[ 5]
ACTA2 (commonly referred to as alpha-smooth muscle actin or α-SMA) is often used as a marker of myofibroblast formation.[ 7] Studies have shown that ACTA2 is associated with TGF-β pathway that enhances contractile properties of hepatic stellate cells leading to liver fibrosis and cirrhosis .[ 8]
^ a b c GRCh38: Ensembl release 89: ENSG00000107796 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035783 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ a b "Entrez Gene: ACTA2 actin, alpha 2, smooth muscle, aorta" .
^ Ueyama H, Bruns G, Kanda N (June 1990). "Assignment of the vascular smooth muscle actin gene ACTSA to human chromosome 10" . Jinrui Idengaku Zasshi. The Japanese Journal of Human Genetics . 35 (2): 145–50. doi :10.1007/BF01876459 . PMID 2398629 .
^ Nagamoto T, Eguchi G, Beebe DC (April 2000). "Alpha-smooth muscle actin expression in cultured lens epithelial cells". Investigative Ophthalmology & Visual Science . 41 (5): 1122–9. PMID 10752950 .
^ Hassan S, Shah H, Shawana S (2020). "Dysregulated epidermal growth factor and tumor growth factor-beta receptor signaling through GFAP-ACTA2 protein interaction in liver fibrosis" . Pakistan Journal of Medical Sciences . 36 (4): 782–787. doi :10.12669/pjms.36.4.1845 . PMC 7260937 . PMID 32494274 .