ACTA2
Sign in to saveAlso known as AAT6, ACTSA, MYMY5, actin, alpha 2, smooth muscle, aorta, actin alpha 2, smooth muscle
ACTA2 (actin alpha 2) is an actin protein with several aliases including alpha-actin, alpha-actin-2, aortic smooth muscle or alpha smooth muscle actin (α-SMA, SMactin, alpha-SM-actin, ASMA). Actins are a family of globular multi-functional proteins that form microfilaments. ACTA2 is one of six different actin isoforms and is involved in the contractile apparatus of smooth muscle. ACTA2 (as with all the actins) is extremely highly conserved and found in nearly all mammals.
Gene data
ACTA2- Name
- actin alpha 2, smooth muscle
- Type
- protein-coding
- Position
- 88,934,822–88,991,339 (−)
- Aliases
- ACTSA, SMDYS
- Ensembl
- ENSG00000107796
- RefSeq RNA
- NM_001141945.3, NM_001320855.2, NM_001406462.1, NM_001406463.1, NM_001406464.1
- RefSeq protein
- NP_001135417.1, NP_001307784.1, NP_001393391.1, NP_001393392.1, NP_001393393.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
actin alpha 2, smooth muscle
- Symbol
- ACTA2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 10:88,934,815-88,991,339
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein ACTA2 PDB 1atn.png
Show 5 more facts
- HomoloGene ID
- 133938
- exact match
- identifiers.org/ncbigene/59
- genomic end
- 90751147
- genomic start
- 90694831
- cytogenetic location
- 10q23.31
via Wikidata · CC0
~1 min read
Article
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- References
- Further reading
- External links
ACTA2 (actin alpha 2) is an actin protein with several aliases including alpha-actin, alpha-actin-2, aortic smooth muscle or alpha smooth muscle actin (α-SMA, SMactin, alpha-SM-actin, ASMA). Actins are a family of globular multi-functional proteins that form microfilaments. ACTA2 is one of six different actin isoforms and is involved in the contractile apparatus of smooth muscle. ACTA2 (as with all the actins) is extremely highly conserved and found in nearly all mammals.
In humans, ACTA2 is encoded by the ACTA2 gene located on 10q22-q24. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, Moyamoya disease, and multisystemic smooth muscle dysfunction syndrome.