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
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; ; right coronary artery; ; popliteal artery; ; urethra; ; ascending aorta; ; seminal vesicula; ; left coronary artery; ; myometrium; ; vena cava; ; superficial temporal artery;
	Top expressed in
	ascending aorta; ; aortic valve; ; iris; ; belly cord; ; cervix; ; calvaria; ; internal carotid artery; ; seminal vesicula; ; external carotid artery; ; left colon;
	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. 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.

ACTA2 (commonly referred to as alpha-smooth muscle actin or α-SMA) is often used as a marker of myofibroblast formation. 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.

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