Aliases for ACTA2 Gene
External Ids for ACTA2 Gene
Previous GeneCards Identifiers for ACTA2 Gene
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]
GeneCards Summary for ACTA2 Gene
ACTA2 (Actin Alpha 2, Smooth Muscle) is a Protein Coding gene. Diseases associated with ACTA2 include Multisystemic Smooth Muscle Dysfunction Syndrome and Aortic Aneurysm, Familial Thoracic 6. Among its related pathways are Apelin signaling pathway and G-Beta Gamma Signaling. Gene Ontology (GO) annotations related to this gene include protein kinase binding. An important paralog of this gene is ACTC1.
UniProtKB/Swiss-Prot Summary for ACTA2 Gene
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
Actin is a ubiquitous globular protein that is one of the most highly-conserved proteins known. It is found in two main states: G-actin is the globular monomeric form, whereas F-actin forms helical polymers. Both G- and F-actin are intrinsically flexible structures.