ACTA2

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ACTA2
Protein ACTA2 PDB 1atn.png
Identifiers
AliasesACTA2, AAT6, ACTSA, MYMY5, actin, alpha 2, smooth muscle, aorta, actin alpha 2, smooth muscle
External IDsOMIM: 102620 MGI: 87909 HomoloGene: 133938 GeneCards: ACTA2
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for ACTA2
Genomic location for ACTA2
Band10q23.31Start88,935,074 bp[1]
End88,991,339 bp[1]
RNA expression pattern
PBB GE ACTA2 200974 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001141945
NM_001613
NM_001320855

NM_007392

RefSeq (protein)

NP_001135417
NP_001307784
NP_001604

NP_031418

Location (UCSC)Chr 10: 88.94 – 88.99 MbChr 19: 34.24 – 34.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 6 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.[5][6] 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.[5]

ACTA2 (commonly referred to as alpha-smooth muscle actin or α-SMA) is often used as a marker of myofibroblast formation.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000107796 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035783 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: ACTA2 actin, alpha 2, smooth muscle, aorta".
  6. ^ Ueyama H, Bruns G, Kanda N (June 1990). "Assignment of the vascular smooth muscle actin gene ACTSA to human chromosome 10". Jinrui Idengaku Zasshi. The Japanese Journal of Human Genetics. 35 (2): 145–50. doi:10.1007/BF01876459. PMID 2398629.
  7. ^ Nagamoto T, Eguchi G, Beebe DC (April 2000). "Alpha-smooth muscle actin expression in cultured lens epithelial cells". Investigative Ophthalmology & Visual Science. 41 (5): 1122–9. PMID 10752950.

Further reading[edit]

External links[edit]