InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ACTA2

Summary

InnateDB Protein

IDBP-81616.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ACTA2

Protein Name

actin, alpha 2, smooth muscle, aorta

Synonyms

AAT6; ACTSA; MYMY5;

Species

Homo sapiens

Ensembl Protein

ENSP00000224784

InnateDB Gene

IDBG-81614 (ACTA2)

Protein Structure

UniProt Annotation

Function

Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Subcellular Localization

Cytoplasm, cytoskeleton.

Disease Associations

Note=ACTA2 mutations predispose patients to a variety of diffuse and diverse vascular diseases, premature onset coronary artery disease (CAD), premature ischemic strokes and Moyamoya disease.Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. {ECO:0000269PubMed:17994018, ECO:0000269PubMed:19409525, ECO:0000269PubMed:19639654}. Note=The disease is caused by mutations affecting the gene represented in this entry.Moyamoya disease 5 (MYMY5) [MIM:614042]: A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. {ECO:0000269PubMed:20970362}. Note=The disease is caused by mutations affecting the gene represented in this entry.Multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834]: A syndrome characterized by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension. {ECO:0000269PubMed:20734336}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 70 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.