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ACTA2 Gene(Protein Coding)

Actin, Alpha 2, Smooth Muscle, Aorta

GCID:
GC10M088935
GIFtS:
67
Genes Participants
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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
  • Actin, Aortic Smooth Muscle 3
  • 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 Moyamoya Disease 5. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and GPCR Pathway. GO annotations related to this gene include protein kinase binding. An important paralog of this gene is ACTG2.

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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACTA2 Gene

Genomics for ACTA2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for ACTA2 Gene

Enhancers for ACTA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G088988 1.6 Ensembl ENCODE dbSUPER 27.4 -1.9 -1853 8.6 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF207 ZNF143 FAS ACTA2 ACTA2-AS1 CH25H FAS-AS1 GC10M088853
GH10G089355 1.1 ENCODE dbSUPER 19 -364.3 -364269 0.2 DDX20 BACH1 ZNF175 CEBPG FOSL1 IRF9 ZNF766 NR2F6 ZNF584 ZNF639 ACTA2 IFIT1B ENSG00000232110 IFIT3 IFIT1 IFIT6P LOC101926887
GH10G088986 0.9 ENCODE dbSUPER 22.9 +4.5 4532 0.2 HDGF CTCF PKNOX1 ZBED1 TRIM22 MAX YBX1 REST RAD21 EGR1 ACTA2 FAS
GH10G088987 0.8 Ensembl ENCODE 22 +3.8 3790 0.4 CBFB EED IKZF1 TRIM22 RELB ETV6 IKZF2 ACTA2 FAS
GH10G089030 1.1 Ensembl ENCODE 11.2 -40.7 -40716 2.2 RFX5 GATA2 SCRT2 FOS RELB DEK CEBPB TBX21 MAFF CBX8 FAS CH25H ACTA2-AS1 ACTA2 GC10P089027 MIR4679-1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACTA2 on UCSC Golden Path with GeneCards custom track

Promoters for ACTA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000031278 -310 3401 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF207 ZNF143

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 Structure • Gene Density

RefSeq DNA sequence for ACTA2 Gene

Proteins for ACTA2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for ACTA2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

ENSEMBL proteins:
REFSEQ proteins:

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ACTA2 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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:0005524 ATP binding IEA --
GO:0019901 protein kinase binding ISS --
genes like me logo Genes that share ontologies with ACTA2: view
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

CRISPR Products

miRNA for ACTA2 Gene

miRTarBase miRNAs that target ACTA2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ACTA2

Cell Line 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACTA2 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
nucleus 2

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 IEA --
GO:0015629 actin cytoskeleton IEA --
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:0008217 regulation of blood pressure IEA --
GO:0009615 response to virus IEP 16548883
GO:0010628 positive regulation of gene expression ISS --
GO:0014829 vascular smooth muscle contraction IEA --
genes like me logo Genes that share ontologies with ACTA2: view

Drugs & Compounds for ACTA2 Gene

Products:

  1. Drug

(8) Drugs for ACTA2 Gene - From: ApexBio and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Latrunculin A Experimental Pharma Inhibitor of actin assembly and polymerization 0
Cytochalasin D Pharma inhibitor of actin polymerization, selective, Disrupts actin filament function 0
Jasplakinolide Pharma Stabilizes F-actin; promotes actin polymerization 0
CK 666 Pharma 0
CK 869 Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cytochalasin B
14930-96-2
Thymosin beta4
77591-33-4

(5) Tocris Compounds for ACTA2 Gene

Compound Action Cas Number
Cytochalasin B Inhibitor of actin polymerization 14930-96-2
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
Thymosin beta4 Potent actin polymerization regulator 77591-33-4

(8) ApexBio Compounds for ACTA2 Gene

Compound Action Cas Number
CK 666 442633-00-3
CK 869 388592-44-7
Cytochalasin D inhibitor of actin polymerization, selective 22144-77-0
Jasplakinolide 102396-24-7
Latrunculin A 76343-93-6
Phalloidin 17466-45-4
SMIFH2 340316-62-3
Wiskostatin 253449-04-6
genes like me logo Genes that share compounds with ACTA2: view

Transcripts for ACTA2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ACTA2 Gene

(3) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(1088) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACTA2 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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
ACTA2
ECgene alternative splicing isoforms for
ACTA2

Expression for ACTA2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACTA2 Gene

mRNA expression in normal human tissues for ACTA2 Gene
mRNA expression by BioGPS for ACTA2 GenemRNA expression by GTEx 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, MaxQB, and MOPED for ACTA2 Gene



Protein tissue co-expression partners for ACTA2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACTA2 Gene:

ACTA2

SOURCE GeneReport for Unigene cluster for ACTA2 Gene:

Hs.500483

Evidence on tissue expression from TISSUES for ACTA2 Gene

  • Muscle(4.7)
  • Lung(4.6)
  • Nervous system(4.5)
  • Intestine(4.3)
  • Pancreas(4.2)
  • Stomach(4.2)
  • Eye(4.1)
  • Kidney(3.6)
  • Heart(3.5)
  • Liver(3.4)
  • Skin(3.2)
  • Spleen(2.8)
  • Gall bladder(2.7)
  • Adrenal gland(2.1)
  • Bone(2)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACTA2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • pharynx
  • skull
Thorax:
  • aorta
  • chest wall
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • appendix
  • biliary tract
  • duodenum
  • intestine
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
  • testicle
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ACTA2: view

Primer 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
dog
(Canis familiaris)
 Mammalia ACTC 35
  • 100 (a)
 OneToOne
ACTA2 34
  • 88.42 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ACTA2 35
  • 100 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia ACTA2 34
  • 99.56 (n)
oppossum
(Monodelphis domestica)
 Mammalia ACTA2 35
  • 96 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia ACTA2 34 35
  • 93.19 (n)
mouse
(Mus musculus)
 Mammalia Acta2 34 16 35
  • 91.42 (n)
rat
(Rattus norvegicus)
 Mammalia Acta2 34
  • 90.19 (n)
chicken
(Gallus gallus)
 Aves ACTG2 35
  • 100 (a)
 ManyToMany
ACTA2 34
  • 85.59 (n)
lizard
(Anolis carolinensis)
 Reptilia -- 35
  • 100 (a)
 ManyToMany
-- 35
  • 98 (a)
 ManyToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia MGC75582 34
  • 83.64 (n)
zebrafish
(Danio rerio)
 Actinopterygii acta2 35
  • 99 (a)
 OneToMany
acta1a 34
  • 83.82 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Act5C 36
  • 94 (a)
Act42A 36
  • 93 (a)
Act57B 36
  • 92 (a)
Act79B 36
  • 92 (a)
Act87E 36
  • 92 (a)
Act88F 36
  • 92 (a)
Arp53D 36
  • 62 (a)
worm
(Caenorhabditis elegans)
 Secernentea act-2 36
  • 94 (a)
act-1 36
  • 93 (a)
act-3 36
  • 93 (a)
act-5 36
  • 91 (a)
F42C5.9 36
  • 28 (a)
soybean
(Glycine max)
 eudicotyledons Gma.1913 34
rice
(Oryza sativa)
 Liliopsida Os12g0163700 34
  • 74.26 (n)
Species where no ortholog for ACTA2 was found in the sources mined by GeneCards:
  • 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

Paralogs for ACTA2 Gene

(33) SIMAP similar genes for ACTA2 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes 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
rs112602953 Pathogenic, Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] 88,943,813(-) CAACC(A/C/G)GGAGA reference, missense
rs121434526 Pathogenic, Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] 88,941,794(-) CTGGA(C/T)GCACA reference, missense
rs121434527 Pathogenic, Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] 88,939,542(-) TTTCC(A/G)CTGCC nc-transcript-variant, reference, missense
rs121434528 Pathogenic, Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] 88,939,543(-) GTTTC(C/T)GCTGC nc-transcript-variant, reference, missense
rs387906592 Pathogenic, Moyamoya disease 5 (MYMY5) [MIM:614042], Multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834] 88,941,309(-) CATGC(A/G)TCTGG reference, missense

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

Variant ID Type Subtype PubMed ID
esv3624139 CNV gain 21293372
esv3624143 CNV loss 21293372
esv3624144 CNV gain 21293372
esv3624145 CNV loss 21293372
nsv825504 CNV loss 20364138
nsv831942 CNV gain 17160897
nsv831943 CNV gain 17160897
nsv948130 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
ACTA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACTA2

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

Disorders for ACTA2 Gene

MalaCards: The human disease database

(21) 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
moyamoya disease 5
  • mymy5
aortic aneurysm, familial thoracic 6
  • familial thoracic aortic aneurysm with livedo reticularis and iris flocculi
acta2-related thoracic aortic aneurysms and aortic dissections
  • aortic aneurysm, familial thoracic 6
connective tissue disease
  • connective tissue disorder
- 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
  • 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.
  • 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}.

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 22 64
  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 22 64
  3. Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2). (PMID: 21212136) Disabella E. … Arbustini E. (Heart 2011) 3 46 64
  4. Analysis of ACTA2 in European Moyamoya disease patients. (PMID: 20970362) Roder C. … Krischek B. (Eur. J. Paediatr. Neurol. 2011) 3 4 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for ACTA2 Gene

  • Addgene plasmids for ACTA2

Sources for ACTA2 Gene

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