ACTA2

ACTA2
Identifiers
Aliases	ACTA2, AAT6, ACTSA, MYMY5, actin, alpha 2, smooth muscle, aorta, actin alpha 2, smooth muscle
External IDs	OMIM: 102620; MGI: 87909; HomoloGene: 133938; GeneCards: ACTA2; OMA:ACTA2 - orthologs
Gene location (Human)
Chr.	Chromosome 10 (human)
End	88,991,339 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	34,232,990 bp
RNA expression pattern
	Top expressed in
	saphenous vein; ; tail of epididymis; ; right coronary artery; ; popliteal artery; ; tibial arteries; ; urethra; ; ascending aorta; ; seminal vesicula; ; body of uterus; ; Descending thoracic aorta;
	Top expressed in
	ascending aorta; ; tunica media of zone of aorta; ; aortic valve; ; iris; ; umbilical cord; ; cervix; ; calvaria; ; migratory enteric neural crest cell; ; internal carotid artery; ; seminal vesicula;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	ATP binding; nucleotide binding; protein kinase binding;
Cellular component	cytosol; cytoplasm; actin cytoskeleton; smooth muscle contractile fiber; cell body; lamellipodium; filopodium; cytoskeleton; extracellular exosome; extracellular space; protein-containing complex;
Biological process	muscle contraction; regulation of blood pressure; vascular associated smooth muscle contraction; mesenchyme migration; positive regulation of gene expression; glomerular mesangial cell development; response to virus; positive regulation of transcription, DNA-templated;
	Sources:Amigo / QuickGO
Orthologs
	59
	11475
	ENSG00000107796
	ENSMUSG00000035783
	P62736
	P62737
	NM_001141945; NM_001613; NM_001320855
	NM_007392
	NP_001135417; NP_001307784; NP_001604
	NP_031418
	Wikidata
View/Edit Human	View/Edit Mouse

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]

References

^ ^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.

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Harris DE, Warshaw DM, Periasamy M (March 1992). "Nucleotide sequences of the rabbit alpha-smooth-muscle and beta-non-muscle actin mRNAs". Gene. 112 (2): 265–6. doi:10.1016/0378-1119(92)90388-6. PMID 1555776.
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Kamada S, Kakunaga T (February 1989). "The nucleotide sequence of a human smooth muscle alpha-actin (aortic type) cDNA". Nucleic Acids Research. 17 (4): 1767. doi:10.1093/nar/17.4.1767. PMC 331843. PMID 2701935.
Kedes L, Ng SY, Lin CS, Gunning P, Eddy R, Shows T, Leavitt J (1986). "The human beta-actin multigene family". Transactions of the Association of American Physicians. 98: 42–6. PMID 3842206.
Ueyama H, Hamada H, Battula N, Kakunaga T (June 1984). "Structure of a human smooth muscle actin gene (aortic type) with a unique intron site". Molecular and Cellular Biology. 4 (6): 1073–8. doi:10.1128/MCB.4.6.1073. PMC 368875. PMID 6330528.
Strauch AR, Rubenstein PA (June 1984). "A vascular smooth muscle alpha-isoactin biosynthetic intermediate in BC3H1 cells. Identification of acetylcysteine at the NH2 terminus". The Journal of Biological Chemistry. 259 (11): 7224–9. doi:10.1016/S0021-9258(17)39861-7. PMID 6725286.
Ueyama H, Inazawa J, Ariyama T, Nishino H, Ochiai Y, Ohkubo I, Miwa T (March 1995). "Reexamination of chromosomal loci of human muscle actin genes by fluorescence in situ hybridization". The Japanese Journal of Human Genetics. 40 (1): 145–8. doi:10.1007/BF01874078. PMID 7780165.
Arora PD, McCulloch CA (April 1994). "Dependence of collagen remodelling on alpha-smooth muscle actin expression by fibroblasts". Journal of Cellular Physiology. 159 (1): 161–75. doi:10.1002/jcp.1041590120. PMID 8138584. S2CID 84214215.
Iwata Y, Pan Y, Yoshida T, Hanada H, Shigekawa M (February 1998). "Alpha1-syntrophin has distinct binding sites for actin and calmodulin". FEBS Letters. 423 (2): 173–7. Bibcode:1998FEBSL.423..173I. doi:10.1016/S0014-5793(98)00085-4. PMID 9512352. S2CID 26209999.
Comer KA, Dennis PA, Armstrong L, Catino JJ, Kastan MB, Kumar CC (March 1998). "Human smooth muscle alpha-actin gene is a transcriptional target of the p53 tumor suppressor protein". Oncogene. 16 (10): 1299–308. doi:10.1038/sj.onc.1201645. PMID 9546431. S2CID 11098751.