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Aliases for ACTA2 Gene

Aliases for ACTA2 Gene

  • Actin, Alpha 2, Smooth Muscle, Aorta 2 3 5
  • Cell Growth-Inhibiting Gene 46 Protein 3 4
  • ACTSA 3 4
  • Alpha-Cardiac Actin 3
  • Alpha-Actin-2 4
  • MYMY5 3
  • ACTVS 4
  • AAT6 3

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 multisystemic smooth muscle dysfunction syndrome and aortic aneurysm, familial thoracic 6. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Cardiac conduction. GO annotations related to this gene include protein kinase binding. An important paralog of this gene is ACTRT1.

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.

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:

Genomic Location for ACTA2 Gene

Chromosome:
10
Start:
88,935,074 bp from pter
End:
88,991,390 bp from pter
Size:
56,317 bases
Orientation:
Minus strand

Genomic View for ACTA2 Gene

Genes around ACTA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACTA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P62736-ACTA_HUMAN
    Recommended name:
    Actin, aortic smooth muscle
    Protein Accession:
    P62736
    Secondary Accessions:
    • B2R8A4
    • P03996
    • P04108
    • Q6FI19

    Protein attributes for ACTA2 Gene

    Size:
    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.
    Miscellaneous:
    • 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

  • (Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-52 of one monomer and Glu-272 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148).
  • 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.
  • 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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACTA2 Gene

Antibody Products

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

No data available for DME Specific Peptides for ACTA2 Gene

Domains & Families for ACTA2 Gene

Gene Families for ACTA2 Gene

HGNC:

Protein Domains for ACTA2 Gene

Graphical View of Domain Structure for InterPro Entry

P62736

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for ACTA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACTA2 Gene

MGI Knock Outs for ACTA2:

Animal Model Products

miRNA for ACTA2 Gene

miRTarBase miRNAs that target ACTA2

Inhibitory RNA Products

Cell Line Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for ACTA2 Gene COMPARTMENTS Subcellular localization image for ACTA2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 2
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ACTA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 11927518
GO:0005829 cytosol TAS --
GO:0015629 actin cytoskeleton IEA --
GO:0030027 lamellipodium ISS --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with ACTA2: view

Pathways & Interactions for ACTA2 Gene

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

SIGNOR curated interactions for ACTA2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ACTA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS --
GO:0009615 response to virus IEP 16548883
GO:0010628 positive regulation of gene expression ISS --
genes like me logo Genes that share ontologies with ACTA2: view

Drugs & Compounds for ACTA2 Gene

(1) Drugs for ACTA2 Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Latrunculin A Experimental Pharma Inhibitor of actin assembly and polymerization 0

(4) Additional Compounds for ACTA2 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
187-1, N-WASP inhibitor
380488-27-7
CK 666
442633-00-3
CK 869
388592-44-7
Wiskostatin
253449-04-6
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:

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

No ASD Table

Relevant External Links for ACTA2 Gene

GeneLoc Exon Structure for
ACTA2
ECgene alternative splicing isoforms for
ACTA2

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 (x7.3), Artery - Coronary (x5.7), Artery - Aorta (x5.5), Esophagus - Gastroesophageal Junction (x4.1), and Esophagus - Muscularis (x4.0).

Protein differential expression in normal tissues from HIPED for ACTA2 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ACTA2: view

Protein tissue co-expression partners for ACTA2 Gene

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia ACTA2 35
  • 99.56 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia ACTA2 35
  • 93.19 (n)
  • 100 (a)
ACTA2 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACTC 36
  • 100 (a)
OneToOne
ACTA2 35
  • 88.42 (n)
  • 100 (a)
mouse
(Mus musculus)
Mammalia Acta2 36
  • 100 (a)
OneToOne
Acta2 16
Acta2 35
  • 91.42 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia ACTA2 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACTA2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acta2 35
  • 90.19 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves ACTA2 35
  • 85.59 (n)
  • 99.73 (a)
ACTG2 36
  • 100 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 100 (a)
ManyToMany
-- 36
  • 98 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75582 35
  • 83.64 (n)
  • 98.14 (a)
zebrafish
(Danio rerio)
Actinopterygii acta1a 35
  • 83.82 (n)
  • 97.35 (a)
acta2 36
  • 99 (a)
OneToMany
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)
worm
(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)
soybean
(Glycine max)
eudicotyledons Gma.1913 35
rice
(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

ENSEMBL:
Gene Tree for ACTA2 (if available)
TreeFam:
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
rs1388 -- 88,942,942(+) GCTGG(A/C)AGATC intron-variant
rs1389 -- 88,942,948(+) AGATC(A/G)TGGAT intron-variant
rs714887 -- 88,941,888(-) TCAGC(C/T)CTTTG intron-variant
rs1926203 -- 88,967,577(-) TTGCA(G/T)GTAAT intron-variant
rs3758486 -- 88,954,971(-) GGATA(C/T)ATGGC 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

Variation tolerance for ACTA2 Gene

Residual Variation Intolerance Score: 31.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.13; 2.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACTA2 Gene

HapMap Linkage Disequilibrium report
ACTA2
Human Gene Mutation Database (HGMD)
ACTA2

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

Disorders for ACTA2 Gene

MalaCards: The human disease database

(26) MalaCards diseases for ACTA2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
multisystemic smooth muscle dysfunction syndrome
  • congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy
aortic aneurysm, familial thoracic 6
  • familial thoracic aortic aneurysm with livedo reticularis and iris flocculi
moyamoya disease 5
  • mymy5
acta2-related thoracic aortic aneurysms and aortic dissections
  • aortic aneurysm, familial thoracic 6
thoracic aortic aneurysms and aortic dissections
  • taad
- elite association - COSMIC cancer census association via MalaCards
Search ACTA2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACTA_HUMAN
  • 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. {ECO:0000269 PubMed:19409525}.
  • 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.

Relevant External Links for ACTA2

Genetic Association Database (GAD)
ACTA2
Human Genome Epidemiology (HuGE) Navigator
ACTA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACTA2
genes like me logo Genes that share disorders with ACTA2: view

No data available for 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 67
  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 23
  3. Assignment of the vascular smooth muscle actin gene ACTSA to human chromosome 10. (PMID: 2398629) Ueyama H. … Kanda N. (Jinrui Idengaku Zasshi 1990) 2 3
  4. TaqI polymorphism in the 3' flanking region of the human aortic smooth muscle actin gene. (PMID: 1969628) Ueyama H. … Ohsugi R. (Nucleic Acids Res. 1990) 3 23
  5. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. (PMID: 25852190) So J. … Colwill K. (Sci Signal 2015) 3

Products for ACTA2 Gene

  • Cloud-Clone Corp. Antibodies for ACTA2
  • Cloud-Clone Corp. Proteins for ACTA2
  • Cloud-Clone Corp Assay Kits for ACTA2

Sources for ACTA2 Gene

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