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Aliases for ACTA2 Gene

Aliases for ACTA2 Gene

  • Actin, Alpha 2, Smooth Muscle, Aorta 2 3
  • ACTSA 3 4 6
  • Cell Growth-Inhibiting Gene 46 Protein 3 4
  • MYMY5 3 6
  • AAT6 3 6
  • Actin, Aortic Smooth Muscle 3
  • Alpha-Cardiac Actin 3
  • Alpha-Actin-2 4
  • ACTVS 4

External Ids for ACTA2 Gene

Previous GeneCards Identifiers for ACTA2 Gene

  • GC10M089576
  • GC10M089916
  • GC10M090826
  • GC10M090359
  • GC10M090684
  • GC10M084329

Summaries for ACTA2 Gene

Entrez Gene Summary for ACTA2 Gene

  • 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. [provided by RefSeq, Nov 2008]

GeneCards Summary for ACTA2 Gene

ACTA2 (Actin, Alpha 2, Smooth Muscle, Aorta) is a Protein Coding gene. Diseases associated with ACTA2 include aortic aneurysm, familial thoracic 6 and multisystemic smooth muscle dysfunction syndrome. Among its related pathways are Akt Signaling and ERK Signaling. An important paralog of this gene is ACTB.

UniProtKB/Swiss-Prot for ACTA2 Gene

  • Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells

Tocris Summary for ACTA2 Gene

  • Actin is a ubiquitous globular protein that is one of the most highly-conserved proteins known. It is found in two main states; G-actin is the globular monomeric form, whereas F-actin forms helical polymers. Both G- and F-actin are intrinsically flexible structures - a feature vital in actin's role as a dynamic filament network. Actin has four major functions. Firstly, F-actin polymers form microfilaments - polar intracellular 'tracks' for kinesin motor proteins, allowing the transport of vesicles, organelles and other cargo. Actin is a component of the cytoskeleton and links to alpha-actinin, E-cadherin and beta-catenin at adherens junctions. This gives mechanical support to cells and attaches them to each other and the extracellular matrix. In muscle cells, actin-rich thin filaments associate with myosin-rich thick filaments to form actomyosin myofibrils. Using energy from the hydrolysis of ATP, myofibrils undergo cyclic shortening through actin-myosin head interactions, which represents the mechanics of muscle contraction. Finally, actin has a role in cell motility through polymerization and depolymerization of fibrils.

Gene Wiki entry for ACTA2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACTA2 Gene

Genomics for ACTA2 Gene

Regulatory Elements for ACTA2 Gene

Transcription factor binding sites by QIAGEN in the ACTA2 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ACTA2 Gene

88,935,074 bp from pter
88,991,390 bp from pter
56,317 bases
Minus strand

Genomic View for ACTA2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACTA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTA2 Gene

Proteins for ACTA2 Gene

  • Protein details for ACTA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Actin, aortic smooth muscle
    Protein Accession:
    Secondary Accessions:
    • B2R8A4
    • P03996
    • P04108
    • Q6FI19

    Protein attributes for ACTA2 Gene

    377 amino acids
    Molecular mass:
    42009 Da
    Quaternary structure:
    • Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others
    • In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility

neXtProt entry for ACTA2 Gene

Proteomics data for ACTA2 Gene at MOPED

Post-translational modifications for ACTA2 Gene

  • Monomethylation at Lys-86 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration (By similarity).
  • Oxidation of Met-46 and Met-49 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promote actin repolymerization (By similarity).
  • Ubiquitination at Lys52, Lys63, Lys70, Lys115, Lys193, Lys215, Lys293, Lys317, Lys328, and Lys330
  • Modification sites at PhosphoSitePlus

Other Protein References for ACTA2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for ACTA2 (alpha-Smooth Muscle Actin)
  • Cell Signaling Technology (CST) Antibodies for ACTA2 (ACTA2)

No data available for DME Specific Peptides for ACTA2 Gene

Domains for ACTA2 Gene

Gene Families for ACTA2 Gene


Protein Domains for ACTA2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the actin family.
  • Belongs to the actin family.
genes like me logo Genes that share domains with ACTA2: view

Function for ACTA2 Gene

Molecular function for ACTA2 Gene

GENATLAS Biochemistry:
actin,alpha 2,smooth muscle,aorta,major constituent of thin filaments
UniProtKB/Swiss-Prot Function:
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells
UniProtKB/Swiss-Prot Induction:
Up-regulated in response to enterovirus 71 (EV71) infection.

Gene Ontology (GO) - Molecular Function for ACTA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0005524 ATP binding IEA --
GO:0019901 protein kinase binding ISS --
genes like me logo Genes that share ontologies with ACTA2: view

Phenotypes for ACTA2 Gene

genes like me logo Genes that share phenotypes with ACTA2: view

Animal Models for ACTA2 Gene

MGI Knock Outs for ACTA2:

Animal Model Products

miRNA for ACTA2 Gene

miRTarBase miRNAs that target ACTA2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACTA2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ACTA2 Gene

Localization for ACTA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTA2 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

Jensen Localization Image for ACTA2 Gene COMPARTMENTS Subcellular localization image for ACTA2 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
extracellular 1
mitochondrion 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ACTA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 23580065
GO:0005737 cytoplasm IDA 11927518
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton --
GO:0015629 actin cytoskeleton IEA --
genes like me logo Genes that share ontologies with ACTA2: view

Pathways for ACTA2 Gene

genes like me logo Genes that share pathways with ACTA2: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Wound Healing in human,mouse,rat
    • TGFB Signaling Targets in human,mouse,rat

Gene Ontology (GO) - Biological Process for ACTA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS --
GO:0008217 regulation of blood pressure IEA --
GO:0009615 response to virus IEP 16548883
GO:0014829 vascular smooth muscle contraction IEA --
GO:0072144 glomerular mesangial cell development IEP 17464107
genes like me logo Genes that share ontologies with ACTA2: view

Drugs for ACTA2 Gene

(5) Tocris Compounds for ACTA2 Gene

Compound Action Cas Number
CK 666 Arp2/3 inhibitor; inhibits actin polymerization [442633-00-3]
Cytochalasin D Disrupts actin filament function [22144-77-0]
Jasplakinolide Stabilizes F-actin; promotes actin polymerization [102396-24-7]
Latrunculin A Inhibitor of actin assembly and polymerization [76343-93-6]
Phalloidin Promotes actin polymerization [17466-45-4]
genes like me logo Genes that share compounds with ACTA2: view

Transcripts for ACTA2 Gene

Unigene Clusters for ACTA2 Gene

Actin, alpha 2, smooth muscle, aorta:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACTA2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACTA2 Gene

No ASD Table

Relevant External Links for ACTA2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ACTA2 Gene

mRNA expression in normal human tissues for ACTA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACTA2 Gene

This gene is overexpressed in Artery - Tibial (7.3), Artery - Coronary (5.7), Artery - Aorta (5.5), Esophagus - Gastroesophageal Junction (4.1), and Esophagus - Muscularis (4.0).

Protein differential expression in normal tissues for ACTA2 Gene

This gene is overexpressed in Heart (9.9) and Monocytes (9.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ACTA2 Gene

SOURCE GeneReport for Unigene cluster for ACTA2 Gene Hs.500483

genes like me logo Genes that share expressions with ACTA2: view

Expression partners for ACTA2 Gene

* - Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for ACTA2 Gene

Orthologs for ACTA2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACTA2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ACTA2 35
  • 93.19 (n)
  • 100 (a)
ACTA2 36
  • 85 (a)
(Canis familiaris)
Mammalia ACTA2 35
  • 88.42 (n)
  • 100 (a)
  • 100 (a)
(Mus musculus)
Mammalia Acta2 35
  • 91.42 (n)
  • 100 (a)
Acta2 16
Acta2 36
  • 100 (a)
(Pan troglodytes)
Mammalia ACTA2 35
  • 99.56 (n)
  • 100 (a)
(Rattus norvegicus)
Mammalia Acta2 35
  • 90.19 (n)
  • 100 (a)
(Monodelphis domestica)
Mammalia ACTA2 36
  • 96 (a)
(Ornithorhynchus anatinus)
Mammalia ACTA2 36
  • 100 (a)
(Gallus gallus)
Aves ACTA2 35
  • 85.59 (n)
  • 99.73 (a)
ACTG2 36
  • 100 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 100 (a)
-- 36
  • 98 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75582 35
  • 83.64 (n)
  • 98.14 (a)
(Danio rerio)
Actinopterygii acta1a 35
  • 83.82 (n)
  • 97.35 (a)
acta2 36
  • 99 (a)
fruit fly
(Drosophila melanogaster)
Insecta Act42A 37
  • 93 (a)
Act57B 37
  • 92 (a)
Act5C 37
  • 94 (a)
Act79B 37
  • 92 (a)
Act87E 37
  • 92 (a)
Act88F 37
  • 92 (a)
Arp53D 37
  • 62 (a)
(Caenorhabditis elegans)
Secernentea act-1 37
  • 93 (a)
act-2 37
  • 94 (a)
act-3 37
  • 93 (a)
act-5 37
  • 91 (a)
F42C5.9 37
  • 28 (a)
(Glycine max)
eudicotyledons Gma.1913 35
(Oryza sativa)
Liliopsida Os12g0163700 35
  • 74.26 (n)
  • 87.5 (a)
Species with no ortholog for ACTA2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACTA2 Gene

Gene Tree for ACTA2 (if available)
Gene Tree for ACTA2 (if available)

Paralogs for ACTA2 Gene

genes like me logo Genes that share paralogs with ACTA2: view

Variants for ACTA2 Gene

Sequence variations from dbSNP and Humsavar for ACTA2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs112868385 -- 88,965,665(+) TATAA(A/T)GCAAA intron-variant
rs35449970 -- 88,944,009(+) AAAGG(-/G)AAATG intron-variant
rs35145634 -- 88,943,515(+) ATTTT(-/T)GAAGT intron-variant
rs34844033 -- 88,943,370(+) CTCCC(-/C)AACTT intron-variant
rs112811277 -- 88,941,032(+) TAACT(A/G)TTCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACTA2 Gene

Variant ID Type Subtype PubMed ID
nsv831942 CNV Gain 17160897
nsv831943 CNV Gain 17160897
esv2739362 CNV Deletion 23290073
nsv825504 CNV Loss 20364138

Relevant External Links for ACTA2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTA2 Gene

Disorders for ACTA2 Gene

(3) OMIM Diseases for ACTA2 Gene (102620)


  • Note=ACTA2 mutations predispose patients to a variety of diffuse and diverse vascular diseases, premature onset coronary artery disease (CAD), premature ischemic strokes and Moyamoya disease.
  • Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as medial necrosis or Erdheim cystic medial necrosis in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. {ECO:0000269 PubMed:17994018, ECO:0000269 PubMed:19409525, ECO:0000269 PubMed:19639654}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Moyamoya disease 5 (MYMY5) [MIM:614042]: A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a puff of smoke (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. {ECO:0000269 PubMed:20970362}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834]: A syndrome characterized by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension. {ECO:0000269 PubMed:20734336}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for ACTA2 Gene

Relevant External Links for ACTA2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with ACTA2: view

No data available for Novoseek inferred disease relationships and Genatlas for ACTA2 Gene

Publications for ACTA2 Gene

  1. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. (PMID: 19409525) Guo D.-C. … Milewicz D.M. (Am. J. Hum. Genet. 2009) 3 4 23
  2. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. (PMID: 17994018) Guo D.-C. … Milewicz D.M. (Nat. Genet. 2007) 3 4 23
  3. Structure of 3'-downstream segment of the human smooth muscle (aortic-type) alpha-actin-encoding gene and isolation of the specific DNA probe. (PMID: 2612915) Kamada S. … Kakunaga T. (Gene 1989) 3 4
  4. Structure of a human smooth muscle actin gene (aortic type) with a unique intron site. (PMID: 6330528) Ueyama H. … Kakunaga T. (Mol. Cell. Biol. 1984) 3 4
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 48

Products for ACTA2 Gene

Sources for ACTA2 Gene

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