Gene

ACTA2

Species
Homo sapiens
Symbol
ACTA2
Name
actin alpha 2, smooth muscle
Synonyms
  • AAT6
  • actin, alpha 2, smooth muscle, aorta
Biotype
protein coding gene
Automated Description
Predicted to enable protein kinase binding activity. Involved in glomerular mesangial cell development and response to virus. Located in cytoplasm. Part of protein-containing complex. Implicated in Moyamoya disease and thoracic aortic aneurysm. Biomarker of lymphedema.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11937
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
88.935M88.940M88.945M88.950M88.955M88.960M88.965M88.970M88.975M88.980M88.985M88.990M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions