U.S. flag

An official website of the United States government

GTR Home > Genes

ACTA2 actin alpha 2, smooth muscle

Gene ID: 59, updated on 21-Mar-2023
Gene type: protein coding
Also known as: ACTSA


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]

Associated conditions

See all available tests in GTR for this gene

A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
GeneReviews: Not available
Aortic aneurysm, familial thoracic 6See labs
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
GeneReviews: Not available
Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.
GeneReviews: Not available
Familial thoracic aortic aneurysm and aortic dissectionSee labs
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
GeneReviews: Not available
Moyamoya disease 5
MedGen: C3279690OMIM: 614042GeneReviews: Not available
See labs
Multisystemic smooth muscle dysfunction syndrome
MedGen: C3151201OMIM: 613834GeneReviews: Not available
See labs

Copy number response

Copy number response

No evidence available (Last evaluated 2022-09-28)

ClinGen Genome Curation Page

Little evidence for dosage pathogenicity (Last evaluated 2022-09-28)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 10; NC_000010.11 (88935074..88991337, complement)
Total number of exons:


IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.