ACTA2 Back

actin, alpha 2, smooth muscle, aorta

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NCBI Description of ACTA2
The protein encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Defects in this gene cause aortic aneurysm familial thoracic type 6. Multiple alternatively spliced variants, encoding the same protein, have been identified.

Community Annotation of ACTA2 Add / Edit ACTA2: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

ACTA2 is highly significantly mutated in
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ACTA2 is significantly mutated in
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ACTA2 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for ACTA2