ACTA2

Also known as AAT6, ACTSA, MYMY5, actin, alpha 2, smooth muscle, aorta, actin alpha 2, smooth muscle

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 six 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.

Gene data

ACTA2

Name: actin alpha 2, smooth muscle
Type: protein-coding
Position: 88,934,822–88,991,339 (−)
Aliases: ACTSA, SMDYS
Ensembl: ENSG00000107796
RefSeq RNA: NM_001141945.3, NM_001320855.2, NM_001406462.1, NM_001406463.1, NM_001406464.1
RefSeq protein: NP_001135417.1, NP_001307784.1, NP_001393391.1, NP_001393392.1, NP_001393393.1

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].

Gene Ontology

Biological process

muscle contraction

Article

3 sections

Contents

References
Further reading
External links

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.