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ACTA2 Gene(Protein Coding)

Actin, Alpha 2, Smooth Muscle, Aorta

GCID:
GC10M088935
GIFtS:
59
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
  • 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

  • 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]

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 Cardiac conduction and PAK Pathway. Gene Ontology (GO) annotations related to this gene include protein kinase binding. An important paralog of this gene is ACTC1.

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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for ACTA2 Gene

Promoters and enhancers for ACTA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH10I088988 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 577.5 -1.9 -1852 8.6 HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 ZNF2 IRF4 YY1 ZNF213 FAS ACTA2 ENSG00000275693 FAS-AS1 ENSG00000240996 ACTA2-AS1 CH25H GC10M088853
GH10I088949 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 557 +39.3 39349 4.3 CTCF TAF1 MZF1 FEZF1 RAD21 YY1 ZNF766 GATA3 POLR2A PRDM10 ACTA2 STAMBPL1 CH25H LIPF FAS ACTA2-AS1 GC10M088853
GH10I088986 Enhancer 0.9 ENCODE dbSUPER 23 +4.5 4531 0.2 HDGF CTCF PKNOX1 MAX YBX1 RAD21 ATF7 ETV6 IKZF2 RUNX3 ACTA2 GC10M088853 FAS
GH10I088987 Enhancer 0.8 Ensembl ENCODE 22.1 +3.8 3789 0.4 SMARCA5 CTCF CBFB TRIM22 EBF1 BATF IRF4 BCL11A IKZF1 ETV6 ACTA2 FAS GC10M088853
GH10I089030 Enhancer 1 Ensembl ENCODE 11.2 -40.7 -40715 2.2 RFX5 SCRT2 FOS RUNX3 DEK CEBPB SP1 MAFF PRDM6 IKZF1 FAS CH25H ACTA2-AS1 ACTA2 GC10P089027 MIR4679-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACTA2 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ACTA2 Gene

Genomic Locations for ACTA2 Gene
chr10:88,935,074-88,991,390
(GRCh38/hg38)
Size:
56,317 bases
Orientation:
Minus strand
chr10:90,694,831-90,751,147
(GRCh37/hg19)

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 promotes actin repolymerization.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACTA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for ACTA2 (alpha-Smooth Muscle Actin)

No data available for DME Specific Peptides for ACTA2 Gene

Domains & Families for ACTA2 Gene

Gene Families for ACTA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

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

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

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.

Phenotypes From GWAS Catalog for ACTA2 Gene

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

miRNA for ACTA2 Gene

miRTarBase miRNAs that target ACTA2

Clone Products

  • Addgene plasmids for ACTA2

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACTA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA,HDA 23580065
GO:0005737 cytoplasm IDA,ISS 11927518
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0030027 lamellipodium ISS --
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 --
GO:0072144 glomerular mesangial cell development IEP 17464107
GO:0090131 mesenchyme migration ISS --
genes like me logo Genes that share ontologies with ACTA2: view

Drugs & Compounds for ACTA2 Gene

Products:

  1. Drug

(9) Drugs for ACTA2 Gene - From: DrugBank, 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
Phenethyl isothiocyanate Investigational Pharma Target 12
CK 666 Pharma 0
CK 869 Pharma 0
Cytochalasin D Pharma inhibitor of actin polymerization, selective 0

(2) Additional Compounds for ACTA2 Gene - From:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for ACTA2 Gene

Compound Action Cas Number
187-1, N-WASP inhibitor N-WASP inhibitor; inhibits actin assembly 380488-27-7
CK 666 Arp2/3 inhibitor; inhibits actin polymerization 442633-00-3
CK 869 Arp2/3 inhibitor; inhibits actin polymerization 388592-44-7
Latrunculin A Inhibitor of actin assembly and polymerization 76343-93-6
Wiskostatin N-WASP inhibitor; inhibits Arp2/3 activation 253449-04-6

(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

Drug Products

Transcripts for ACTA2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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:

Clone Products

  • Addgene plasmids for ACTA2

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
  2. Gene Expression Assay

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(3.7)
  • Heart(3.5)
  • Liver(3.5)
  • 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
Regions:
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

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 34
  • 100 (a)
 OneToOne
ACTA2 33
  • 88.42 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ACTA2 34
  • 100 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia ACTA2 33
  • 99.56 (n)
oppossum
(Monodelphis domestica)
 Mammalia ACTA2 34
  • 96 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia ACTA2 33 34
  • 93.19 (n)
mouse
(Mus musculus)
 Mammalia Acta2 33 16 34
  • 91.42 (n)
rat
(Rattus norvegicus)
 Mammalia Acta2 33
  • 90.19 (n)
chicken
(Gallus gallus)
 Aves ACTG2 34
  • 100 (a)
 ManyToMany
ACTA2 33
  • 85.59 (n)
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 100 (a)
 ManyToMany
-- 34
  • 98 (a)
 ManyToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia MGC75582 33
  • 83.64 (n)
zebrafish
(Danio rerio)
 Actinopterygii acta2 34
  • 99 (a)
 OneToMany
acta1a 33
  • 83.82 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Act5C 35
  • 94 (a)
Act42A 35
  • 93 (a)
Act57B 35
  • 92 (a)
Act79B 35
  • 92 (a)
Act87E 35
  • 92 (a)
Act88F 35
  • 92 (a)
Arp53D 35
  • 62 (a)
worm
(Caenorhabditis elegans)
 Secernentea act-2 35
  • 94 (a)
act-1 35
  • 93 (a)
act-3 35
  • 93 (a)
act-5 35
  • 91 (a)
F42C5.9 35
  • 28 (a)
soybean
(Glycine max)
 eudicotyledons Gma.1913 33
rice
(Oryza sativa)
 Liliopsida Os12g0163700 33
  • 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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ACTA2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1031989186 uncertain-significance, Thoracic aortic aneurysm and aortic dissection, Moyamoya disease, Multisystemic smooth muscle dysfunction syndrome 88,952,763(-) G/A 5_prime_UTR_variant, intron_variant
rs1057518929 uncertain-significance, Arterial tortuosity, Descending aortic aneurysm, not specified 88,935,354(-) G/C coding_sequence_variant, missense_variant
rs1057521105 uncertain-significance, not specified, Aortic aneurysm, familial thoracic 6 88,941,291(-) C/T coding_sequence_variant, missense_variant
rs1060500132 uncertain-significance, Aortic aneurysm, familial thoracic 6 88,947,313(-) G/A coding_sequence_variant, missense_variant
rs1060500133 uncertain-significance, Aortic aneurysm, familial thoracic 6 88,941,829(-) G/A coding_sequence_variant, missense_variant

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)

Additional Variant Information for ACTA2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ACTA2 Gene

MalaCards: The human disease database

(23) MalaCards diseases for ACTA2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
multisystemic smooth muscle dysfunction syndrome
  • mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy
aortic aneurysm, familial thoracic 6
  • aat6
moyamoya disease 5
  • mymy5
connective tissue disease
  • connective tissue disorder
aortic aneurysm
  • abdominal aortic aneurysm, ruptured
- 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}.

Additional Disease Information for ACTA2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 DC … Milewicz DM (American journal of human genetics 2009) 3 4 22 58
  2. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. (PMID: 17994018) Guo DC … Milewicz DM (Nature genetics 2007) 3 4 22 58
  3. Analysis of ACTA2 in European Moyamoya disease patients. (PMID: 20970362) Roder C … Krischek B (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2011) 3 4 58
  4. Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2). (PMID: 21212136) Disabella E … Arbustini E (Heart (British Cardiac Society) 2011) 3 44 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for ACTA2 Gene

  • Addgene plasmids for ACTA2

Sources for ACTA2 Gene

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