ACTA2, Official Symbol ACTA2provided by HGNC Official Full Name actin alpha 2, smooth muscleprovided by HGNC Primary source HGNC:HGNC:130 See related Ensembl:ENSG00000107796 MIM:102620; AllianceGenome:HGNC:130 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ACTSA Summary 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] Expression Broad expression in endometrium (RPKM 1285.0), prostate (RPKM 863.5) and 16 other tissues See more Orthologs mouse all