ACTA2 Gene (Protein Coding)

Actin Alpha 2, Smooth Muscle

GC10M088935
GIFtS:
49
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 aor... See more...

Aliases for ACTA2 Gene

Aliases for ACTA2 Gene

  • Actin Alpha 2, Smooth Muscle 2 3 5
  • ACTSA 2 3 4
  • Cell Growth-Inhibiting Gene 46 Protein 3 4
  • Actin, Alpha 2, Smooth Muscle, Aorta 2 3
  • Actin, Aortic Smooth Muscle 3 4
  • Alpha-Cardiac Actin 3
  • Alpha-Actin-2 4
  • ACTA2 5
  • 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) 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 Apelin signaling pathway and G-Beta Gamma Signaling. Gene Ontology (GO) annotations related to this gene include protein kinase binding. An important paralog of this gene is ACTC1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for ACTA2 Gene

Genomics for ACTA2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ACTA2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACTA2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACTA2

Top Transcription factor binding sites by QIAGEN in the ACTA2 gene promoter:
  • AP-1
  • Nkx2-5
  • STAT1

Genomic Locations for ACTA2 Gene

Latest Assembly
chr10:88,935,074-88,991,397
(GRCh38/hg38)
Size:
56,324 bases
Orientation:
Minus strand

Previous Assembly
chr10:90,694,831-90,751,154
(GRCh37/hg19 by Entrez Gene)
Size:
56,324 bases
Orientation:
Minus strand

chr10:90,694,831-90,751,147
(GRCh37/hg19 by Ensembl)
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

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  • 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

  • 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.
  • 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.
  • Methylated at His-75 by SETD3.
  • (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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACTA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

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:

Suggested Antigen Peptide Sequences for ACTA2 Gene

GenScript: Design optimal peptide antigens:
  • Cell growth-inhibiting gene 46 protein (ACTA_HUMAN)
  • cDNA FLJ52761, highly similar to Actin, aortic smooth muscle (B4DUI8_HUMAN)
  • Actin, alpha 2, smooth muscle, aorta, isoform CRA_a (D2JYH4_HUMAN)
  • ACTA2 protein (Q13707_HUMAN)
  • Actin, alpha 2, smooth muscle, aorta (Q5T9N7_HUMAN)

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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  6. Cell Lines for research

Molecular function for ACTA2 Gene

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.
GENATLAS Biochemistry:
actin,alpha 2,smooth muscle,aorta,major constituent of thin filaments

Phenotypes From GWAS Catalog for ACTA2 Gene

Gene Ontology (GO) - Molecular Function for ACTA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
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 Models for research

miRNA for ACTA2 Gene

miRTarBase miRNAs that target ACTA2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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 3
plasma membrane 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
peroxisome 1
lysosome 1
golgi apparatus 1

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 HDA 23580065
GO:0005737 cytoplasm ISS,IDA 11927518
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005869 dynactin complex IBA 21873635
genes like me logo Genes that share ontologies with ACTA2: view

Pathways & Interactions for ACTA2 Gene

PathCards logo

SuperPathways for ACTA2 Gene

SuperPathway Contained pathways
1 Actin Nucleation by ARP-WASP Complex
Actin Nucleation and Branching
.66
Actin Nucleation by ARP-WASP Complex
.66
CDC42 Pathway
.41
RhoA Pathway
.35
2 PAK Pathway
Antioxidant Action of Vitamin-C
.56
PAK Pathway
.56
Epithelial Adherens Junctions
.36
3 VEGF Pathway (Qiagen)
VEGF Family Ligands and Receptor Interactions
.66
VEGF Pathway
.66
CCKBR-Gastrin Stimulated Signaling
.36
4 fMLP Pathway
CCR3 Pathway in Eosinophils
.44
fMLP Pathway
.43
Internalin Pathway
.31
5 Sertoli-Sertoli Cell Junction Dynamics
Germ Cell-Sertoli Cell Junction Dynamics
.38
Sertoli-Sertoli Cell Junction Dynamics
.38
Epithelial Tight Junctions
.36
genes like me logo Genes that share pathways with ACTA2: view

Pathways by source for ACTA2 Gene

2 Reactome pathways for ACTA2 Gene
8 GeneGo (Thomson Reuters) pathways for ACTA2 Gene
  • Cell adhesion Gap junctions
  • Cell adhesion Tight junctions
  • Cell adhesion_Cadherin-mediated cell adhesion
  • Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
  • Cytoskeleton remodeling_RalA regulation pathway
43 Qiagen pathways for ACTA2 Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Agrin Interactions at Neuromuscular Junction
  • Antioxidant Action of Vitamin-C
1 Cell Signaling Technology pathway for ACTA2 Gene

Interacting Proteins for ACTA2 Gene

Selected Interacting proteins: P62736-ACTA_HUMAN for ACTA2 Gene via MINT IID

GPS-Prot Interaction Network for ACTA2

SIGNOR curated interactions for ACTA2 Gene

Is activated by:
Is inactivated 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 IBA 21873635
genes like me logo Genes that share ontologies with ACTA2: view

Drugs & Compounds for ACTA2 Gene

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(10) 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 Arp2/3 inhibitor; inhibits actin polymerization 0
CK 869 Pharma Arp2/3 inhibitor; inhibits actin polymerization 0
Wiskostatin Pharma N-WASP inhibitor; inhibits Arp2/3 activation 0

(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 for research

Transcripts for ACTA2 Gene

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mRNA/cDNA for ACTA2 Gene

3 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for ACTA2 Gene

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

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



Protein tissue co-expression partners for ACTA2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACTA2

SOURCE GeneReport for Unigene cluster for ACTA2 Gene:

Hs.500483

Evidence on tissue expression from TISSUES for ACTA2 Gene

  • Muscle(4.8)
  • Lung(4.6)
  • Nervous system(4.6)
  • Intestine(4.5)
  • Pancreas(4.4)
  • Stomach(4.4)
  • Eye(4.4)
  • Kidney(4.1)
  • Heart(4)
  • Skin(3.9)
  • Liver(3.8)
  • Spleen(3.4)
  • Gall bladder(3)
  • Bone(3)
  • Lymph node(2.8)
  • Adrenal gland(2.6)
  • Blood(2.6)
  • Thyroid gland(2.5)

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 30
  • 100 (a)
 OneToOne
ACTA2 29
  • 88.42 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia ACTA2 30
  • 100 (a)
 OneToOne
Chimpanzee
(Pan troglodytes)
 Mammalia ACTA2 29
  • 99.56 (n)
Oppossum
(Monodelphis domestica)
 Mammalia ACTA2 30
  • 96 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ACTA2 29 30
  • 93.19 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Acta2 29 16 30
  • 91.42 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Acta2 29
  • 90.19 (n)
Chicken
(Gallus gallus)
 Aves ACTG2 30
  • 100 (a)
 ManyToMany
ACTA2 29
  • 85.59 (n)
Lizard
(Anolis carolinensis)
 Reptilia -- 30
  • 100 (a)
 ManyToMany
-- 30
  • 98 (a)
 ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia MGC75582 29
  • 83.64 (n)
Zebrafish
(Danio rerio)
 Actinopterygii acta2 30
  • 99 (a)
 OneToMany
acta1a 29
  • 83.82 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta Act5C 31
  • 94 (a)
Act42A 31
  • 93 (a)
Act57B 31
  • 92 (a)
Act79B 31
  • 92 (a)
Act87E 31
  • 92 (a)
Act88F 31
  • 92 (a)
Arp53D 31
  • 62 (a)
Worm
(Caenorhabditis elegans)
 Secernentea act-2 31
  • 94 (a)
act-1 31
  • 93 (a)
act-3 31
  • 93 (a)
act-5 31
  • 91 (a)
F42C5.9 31
  • 28 (a)
Soybean
(Glycine max)
 eudicotyledons Gma.1913 29
Rice
(Oryza sativa)
 Liliopsida Os12g0163700 29
  • 74.26 (n)
Species where no ortholog for ACTA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ACTA2: view image
Alliance of Genome Resources:
Additional Orthologs for ACTA2

Paralogs for ACTA2 Gene

Paralogs for ACTA2 Gene

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

  • ACTA_HUMAN
  • D2JYH4_HUMAN
  • F6QUT6_HUMAN
  • F6UVQ4_HUMAN
  • Q13707_HUMAN

Pseudogenes.org Pseudogenes for ACTA2 Gene

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

Variants for ACTA2 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACTA2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
1000368 Uncertain Significance: Aortic aneurysm, familial thoracic 6 88,943,799(-) G/A
NM_001613.4(ACTA2):c.367C>T (p.Gln123Ter) 		NONSENSE
199673 Uncertain Significance: Familial thoracic aortic aneurysm and aortic dissection 88,939,618(-) C/T
NM_001613.4(ACTA2):c.697G>A (p.Ala233Thr) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
838562 Uncertain Significance: Aortic aneurysm, familial thoracic 6 88,941,223(-) C/T
NM_001613.4(ACTA2):c.616+6G>A 		INTRON
841121 Uncertain Significance: Aortic aneurysm, familial thoracic 6 88,935,255(-) C/T
NM_001613.4(ACTA2):c.1102G>A (p.Gly368Arg) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
845590 Uncertain Significance: Aortic aneurysm, familial thoracic 6 88,943,821(-) C/G
NM_001613.4(ACTA2):c.345G>C (p.Lys115Asn) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ACTA2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
ACTA2

SNP Genotyping and Copy Number Assays for research

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

Disorders for ACTA2 Gene

MalaCards: The human disease database

(46) MalaCards diseases for ACTA2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants 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 variants affecting the gene represented in this entry.
  • Multisystemic smooth muscle dysfunction syndrome (MSMDS) [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 variants affecting the gene represented in this entry.

Additional Disease Information for ACTA2

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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 72
  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 72
  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 72
  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 40 72
  5. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. (PMID: 20734336) Milewicz DM … Regalado ES (American journal of medical genetics. Part A 2010) 3 4 72

ExternalLinks

View latest publications for ACTA2 gene in Mastermind

Products for ACTA2 Gene

  • Addgene plasmids for ACTA2

Sources for ACTA2 Gene