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ACTA2 Gene

protein-coding   GIFtS: 68
GCID: GC10M090684

Actin, Alpha 2, Smooth Muscle, Aorta

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Actin, Alpha 2, Smooth Muscle, Aorta1 2     Actin, Aortic Smooth Muscle2
ACTSA2 3 5     Alpha-Cardiac Actin2
Cell Growth-Inhibiting Gene 46 Protein2 3     ACTVS3
AAT62 5     Alpha-actin-23
MYMY52 5     

External Ids:    HGNC: 1301   Entrez Gene: 592   Ensembl: ENSG000001077967   OMIM: 1026205   UniProtKB: P627363   

Export aliases for ACTA2 gene to outside databases

Previous GC identifers: GC10M089576 GC10M089916 GC10M090826 GC10M090359 GC10M084329


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ACTA2 Gene:
The protein encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that
play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified,
with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are
involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle.
Defects in this gene cause aortic aneurysm familial thoracic type 6. Multiple alternatively spliced variants,
encoding the same protein, have been identified. (provided by RefSeq, Nov 2008)

GeneCards Summary for ACTA2 Gene:
ACTA2 (actin, alpha 2, smooth muscle, aorta) is a protein-coding gene. Diseases associated with ACTA2 include aortic aneurysm, and thoracic aortic aneurysm. An important paralog of this gene is ACTG2.

UniProtKB/Swiss-Prot: ACTA_HUMAN, P62736
Function: Actins are highly conserved proteins that are involved in various types of cell motility and are
ubiquitously expressed in all eukaryotic cells

summary for ACTA2 Gene:
Actin is a ubiquitous globular protein that is one of the most highly-conserved proteins known. It is found
in two main states; G-actin is the globular monomeric form, whereas F-actin forms helical polymers. Both G-
and F-actin are intrinsically flexible structures - a feature vital in actin's role as a dynamic filament
network. Actin has four major functions. Firstly, F-actin polymers form microfilaments - polar intracellular
'tracks' for kinesin motor proteins, allowing the transport of vesicles, organelles and other cargo. Actin
is a component of the cytoskeleton and links to alpha-actinin, E-cadherin and beta-catenin at adherens
junctions. This gives mechanical support to cells and attaches them to each other and the extracellular
matrix. In muscle cells, actin-rich thin filaments associate with myosin-rich thick filaments to form
actomyosin myofibrils. Using energy from the hydrolysis of ATP, myofibrils undergo cyclic shortening through
actin-myosin head interactions, which represents the mechanics of muscle contraction. Finally, actin has a
role in cell motility through polymerization and depolymerization of fibrils.

Gene Wiki entry for ACTA2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACTA2 gene promoter:
         STAT1   AP-1   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ACTA2 promoter sequence
   Search Chromatin IP Primers for ACTA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACTA2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q23.3   Ensembl cytogenetic band:  10q23.31   HGNC cytogenetic band: 10q23.31

ACTA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACTA2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M090684:  view genomic region     (about GC identifiers)

Start:
90,694,831 bp from pter      End:
90,751,147 bp from pter
Size:
56,317 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ACTA_HUMAN, P62736 (See protein sequence)
Recommended Name: Actin, aortic smooth muscle precursor  
Size: 377 amino acids; 42009 Da
Subunit: 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
Secondary accessions: B2R8A4 P03996 P04108 Q6FI19

Explore the universe of human proteins at neXtProt for ACTA2: NX_P62736

Explore proteomics data for ACTA2 at MOPED

Post-translational modifications: 

  • 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)1
  • Monomethylation at Lys-86 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes.
    Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow
    ingression during cytokinesis and cell migration (By similarity)1
  • Ubiquitination2 at Lys52, Lys63, Lys70, Lys115, Lys193, Lys215, Lys293, Lys317, Lys328, Lys330
  • Modification sites at PhosphoSitePlus

  • See ACTA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001135417.1  NP_001604.1  

    ENSEMBL proteins: 
     ENSP00000224784   ENSP00000398239   ENSP00000396730   ENSP00000402373  
    Reactome Protein details: P62736

    ACTA2 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

    ACTA2 Antibody Products:

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    Abcam antibodies for ACTA2 (P68133, P62736, P68032)
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR020902 Actin/actin-like_CS
     IPR004001 Actin_CS
     IPR004000 Actin-related

    Graphical View of Domain Structure for InterPro Entry P62736

    ProtoNet protein and cluster: P62736

    UniProtKB/Swiss-Prot: ACTA_HUMAN, P62736
    Similarity: Belongs to the actin family


    ACTA2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACTA_HUMAN, P62736
    Function: Actins are highly conserved proteins that are involved in various types of cell motility and are
    ubiquitously expressed in all eukaryotic cells
    Induction: Up-regulated in response to enterovirus 71 (EV71) infection

         Genatlas biochemistry entry for ACTA2:
    actin,alpha 2,smooth muscle,aorta,major constituent of thin filaments

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
         
    ACTA2 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Acta2):
     cardiovascular system  muscle  vision/eye 

    ACTA2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Acta2tm1Rjs for ACTA2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACTA2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACTA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACTA2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACTA2

    miRNA
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    miRTarBase miRNAs that target ACTA2:
    hsa-mir-484 (MIRT041870)

    Block miRNA regulation of human, mouse, rat ACTA2 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate ACTA2:
    hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-27b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ACTA2
    Predesigned siRNA for gene silencing in human, mouse, rat ACTA2

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    GenScript: all cDNA clones in your preferred vector (see all 2): ACTA2 (NM_001141945)
    Sino Biological Human cDNA Clone for ACTA2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACTA2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACTA2

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    ESI BIO PureStem Progenitor for ACTA2: 
    PureStem Z11, Meso Progenitor
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTA2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACTA_HUMAN, P62736: Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    extracellular1
    mitochondrion1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005737cytoplasm IDA12355421
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton ----
    GO:0015629actin cytoskeleton IEA--

    ACTA2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACTA2 About   (see all 39)  
    See pathways by source

    SuperPathContained pathways About
    1Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    wtCFTR and delta508 traffic Clathrin coated vesicles formation norm and CF 0.35
    Transport Clathrin coated vesicle cycle0.66
    2Striated Muscle Contraction
    Striated Muscle Contraction0.82
    Smooth Muscle Contraction0.47
    Muscle contraction0.61
    3Development Slit Robo signaling
    Development Slit Robo signaling0.92
    Cytoskeleton remodeling Slit Robo signaling0.92
    4Actin Nucleation by ARP-WASP Complex
    Actin Nucleation and Branching0.66
    CDC42 Pathway0.41
    Actin Nucleation by ARP-WASP Complex0.66
    RhoA Pathway0.35
    5Integrin Pathway
    FAK1 Signaling0.67
    Transendothelial Migration of Leukocytes0.38
    Integrin Pathway0.67

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ACTA2 (see all 43)
        RhoA Pathway
    Paxillin Interactions
    Antioxidant Action of Vitamin-C
    Tec Kinases Signaling
    ITK and TCR Signaling

    1 Cell Signaling Technology (CST) Pathway for ACTA2
        Cytoskeletal Signaling

    Selected GeneGo (Thomson Reuters) Pathways for ACTA2 (see all 8)
        Cytoskeleton remodeling RalA regulation pathway
    Development Slit-Robo signaling
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
    Transport Clathrin-coated vesicle cycle

    2 BioSystems Pathways for ACTA2
        Myometrial Relaxation and Contraction Pathways
    Striated Muscle Contraction


    1 Reactome Pathway for ACTA2
        Smooth Muscle Contraction


    1 Kegg Pathway  (Kegg details for ACTA2):
        Vascular smooth muscle contraction


    ACTA2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACTA2: 
              Fibrosis in human mouse rat
              Hypertension in human mouse rat
              Wound Healing in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Mesenchymal Stem Cell in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ACTA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ACTA2 (P627362, 3 ENSP000002247844) via UniProtKB, MINT, STRING, and/or I2D (see all 358)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAQP273482, 3, ENSP000002380814MINT-7899812 MINT-7900157 I2D: score=1 STRING: ENSP00000238081
    TTNQ8WZ422, 3MINT-7899812 I2D: score=2 
    ENSG00000228321P013753, ENSP000003928584I2D: score=1 STRING: ENSP00000392858
    TNFP013753, ENSP000003986984I2D: score=1 STRING: ENSP00000398698
    ENSG00000204490P013753I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006936muscle contraction TAS--
    GO:0008217regulation of blood pressure IEA--
    GO:0009615response to virus IEP16548883
    GO:0014829vascular smooth muscle contraction IEA--
    GO:0072144glomerular mesangial cell development IEP17464107

    ACTA2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for ACTA2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CK 666Arp2/3 inhibitor; inhibits actin polymerization[442633-00-3]
    Latrunculin AInhibitor of actin assembly and polymerization[76343-93-6]
    Cytochalasin DDisrupts actin filament function[22144-77-0]
    JasplakinolideStabilizes F-actin; promotes actin polymerization[102396-24-7]
    Thymosin beta4Potent actin polymerization regulator[77591-33-4]



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ACTA2 gene (2 alternative transcripts): 
    NM_001141945.1  NM_001613.2  

    Unigene Cluster for ACTA2:

    Actin, alpha 2, smooth muscle, aorta
    Hs.500483  [show with all ESTs]
    Unigene Representative Sequence: BX647362
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000224784(uc001kfp.3 uc010qmy.2 uc010qmz.1) ENST00000480297
    ENST00000458159 ENST00000415557 ENST00000488967 ENST00000482085 ENST00000458208(uc001kfq.3)

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-27b
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      QuantiFast Probe-based Assays in human, mouse, rat ACTA2

    Additional mRNA sequence: 

    AK025094.1 AK127229.1 AK300353.1 AK300664.1 AK313294.1 AY692464.1 BC017554.2 BC093052.1 
    BX647362.1 CR536518.1 J05192.1 X13839.1 

    Selected DOTS entries (see all 43):

    DT.100689391  DT.85100459  DT.100689386  DT.100860825  DT.95167643  DT.100679892  DT.40243079  DT.70100151 
    DT.40123808  DT.95167665  DT.100689393  DT.92462721  DT.95176138  DT.95361305  DT.121212482  DT.121212545 
    DT.121212569  DT.40312861  DT.92462749  DT.100031257  DT.100851124  DT.95167644  DT.95167663  DT.100689378 

    Selected AceView cDNA sequences (see all 1088):

    BM669657 AL048846 CR592949 AI754358 R68989 BP381184 BQ893961 BF341169 
    BM705336 AI754376 CA434774 CA397332 BM971568 BG568916 H26114 BM993696 
    BQ030198 BP338859 CD679017 AA373047 BF447045 AI753914 BP374739 C05048 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ACTA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ACTA2 Expression
    About this image


    ACTA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 37) fully expand
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 21 entries
             Vascular Smooth Muscle Cells Aortic Arch Arteries
             Lateral plate mesoderm-derived smooth muscle cells
             Coronary Artery Smooth Muscle Cells (CASMC)   
     
     Heart (Cardiovascular System)    fully expand to see all 9 entries
             Vascular Smooth Muscle Cells Aortic Arch Arteries
             Heart Tube
             Cardiomyocyte-like progenitor cells
             Coronary Artery Smooth Muscle Cells (CASMC)   
     
     Mesenchymal Stem Cells
             Mesenchymal Stem Cells Microvessels
             Umbilical cord-derived mesenchymal stem cells (family)
             Mesenchymal stem cells
     
     Endothelium (Cardiovascular System)    fully expand to see all 7 entries
             Pericytes Microvessels
             Mixed endothelial progenitors cells
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 4 entries
             Umbilical tissue-derived cells (CNTO2476)
             Human umbilical Smooth Muscle (HUSM)   
    ACTA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACTA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.500483
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACTA2: 
              Fibrosis in human mouse rat
              Hypertension in human mouse rat
              Wound Healing in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Mesenchymal Stem Cell in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ACTA2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTA2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACTA2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acta21 , 5 actin, alpha 2, smooth muscle, aorta1, 5 91.42(n)1
    100(a)1
      19 (29.41 cM)5
    114751  NM_007392.31  NP_031418.11 
     342410915 
    chicken
    (Gallus gallus)
    Aves ACTA21 actin, alpha 2, smooth muscle, aorta 85.59(n)
    99.73(a)
      423787  NM_001031229.1  NP_001026400.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    98(a)
    100(a)
    many ↔ many
    many ↔ many
    GL343699.1(262445-268649)
    GL343246.1(163717-183328)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia MGC755821 actin, alpha sarcomeric/cardiac 83.64(n)
    98.14(a)
      394982  NM_204024.1  NP_989355.1 
    zebrafish
    (Danio rerio)
    Actinopterygii acta1a1 actin, alpha 1a, skeletal muscle 83.82(n)
    97.35(a)
      550445  NM_001017750.1  NP_001017750.1 
    soybean
    (Glycine max)
    eudicotyledons Gma.19132 Transcribed sequence with strong similarity to protein more 77.23(n)    CF921952.1 
    rice
    (Oryza sativa)
    Liliopsida Os12g01637001 Os12g0163700 74.26(n)
    87.5(a)
      4351585  NM_001072765.1  NP_001066233.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACTA2 gene
    ACTG22  ACTRT22  ACTR1A2  ACTB2  ACTC12  ACTRT12  ACTG12  ACTBL22  
    ACTR1B2  ACTA12  ACTRT32  
    Selected SIMAP similar genes for ACTA2 using alignment to 5 protein entries:     ACTA_HUMAN (see all proteins) (see all similar genes):
    ACTC1    PS1TP5BP1    ACTB    ACTBL2    ACTG2    ACT
    ACTG1    POTEF    POTEKP    POTEE    POTEM    POTEI
    POTEJ    ACTA1    ACTR1A    ACTR1B    ACTRT3    ACTRT1

    ACTA2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACTA2 (see all 1062)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0459154
    Aortic aneurysm, familial thoracic 6 (AAT6)4--see VAR_0459152 N T mis40--------
    VAR_0459214
    Aortic aneurysm, familial thoracic 6 (AAT6)4--see VAR_0459212 R H mis40--------
    VAR_0625814
    Aortic aneurysm, familial thoracic 6 (AAT6)4--see VAR_0625812 T N mis40--------
    VAR_0645164
    Multisystemic smooth muscle dysfunction syndrome (MSMDYS)4--see VAR_0645162 R H mis40--------
    VAR_0459164
    Aortic aneurysm, familial thoracic 6 (AAT6)4--see VAR_0459162 R Q mis40--------
    VAR_0625774
    Aortic aneurysm, familial thoracic 6 (AAT6)4--see VAR_0625772 R H mis40--------
    VAR_0459204
    Aortic aneurysm, familial thoracic 6 (AAT6)4--see VAR_0459202 R C mis40--------
    VAR_0625804
    Aortic aneurysm, familial thoracic 6 (AAT6)4--see VAR_0625802 R Q mis40--------
    VAR_0459184
    Aortic aneurysm, familial thoracic 6 (AAT6)4--see VAR_0459182 R C mis40--------
    VAR_0625794
    Aortic aneurysm, familial thoracic 6 (AAT6)4--see VAR_0625792 R Q mis40--------

    HapMap Linkage Disequilibrium report for ACTA2 (90694831 - 90751147 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ACTA2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739362CNV Deletion23290073
    nsv825504CNV Loss20364138
    nsv831943CNV Gain17160897
    nsv831942CNV Gain17160897

    Human Gene Mutation Database (HGMD): ACTA2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACTA2
    DNA2.0 Custom Variant and Variant Library Synthesis for ACTA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 102620   
    OMIM disorders: 611788  613834  614042  
    UniProtKB/Swiss-Prot: ACTA_HUMAN, P62736
  • Note=ACTA2 mutations predispose patients to a variety of diffuse and diverse vascular diseases, premature
    onset coronary artery disease (CAD), premature ischemic strokes and Moyamoya disease
  • Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]: A disease characterized by permanent dilation
    of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a
    characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which
    there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of
    basophilic ground substance. 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. 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for ACTA2 (see all 45):    
    About MalaCards
    aortic aneurysm    thoracic aortic aneurysm    aortic aneurysm, familial thoracic 6    acta2-related thoracic aortic aneurysms and aortic dissections
    familial hypertension    moyamoya disease 5    multisystemic smooth muscle dysfunction syndrome    scar contracture
    thoracic aortic aneurysms and aortic dissections    familial thoracic aortic aneurysm and dissection    moyamoya disease    aortic disease
    aortic aneurysm, familial thoracic 4    loeys-dietz syndrome    hemiplegia    hypertrophic scars
    treacher collins syndrome    neuroma    cerebrovascular disease    basal cell carcinoma

    3 diseases from the University of Copenhagen DISEASES database for ACTA2:
    Moyamoya disease     Aortic aneurysm     Loeys-Dietz syndrome

    ACTA2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    GeneTests: ACTA2
    GeneReviews: ACTA2
    Genetic Association Database (GAD): ACTA2
    Human Genome Epidemiology (HuGE) Navigator: ACTA2 (8 documents)

    Export disorders for ACTA2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ACTA2 gene, integrated from 10 sources (see all 156):
    (articles sorted by number of sources associating them with ACTA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. (PubMed id 19409525)1, 2, 9 Guo D.-C.... Milewicz D.M. (Am. J. Hum. Genet. 2009)
    2. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. (PubMed id 17994018)1, 2, 9 Guo D.-C.... Milewicz D.M. (Nat. Genet. 2007)
    3. Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2). (PubMed id 21212136)1, 4 Disabella E....Arbustini E. (Heart 2011)
    4. Analysis of ACTA2 in European Moyamoya disease patients. (PubMed id 20970362)1, 2 Roder C.... Krischek B. (Eur. J. Paediatr. Neurol. 2011)
    5. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. (PubMed id 20734336)1, 2 Milewicz D.M.... Regalado E.S. (Am. J. Med. Genet. A 2010)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. (PubMed id 19654303)1, 4 Broderick P....Houlston R.S. (Cancer Res. 2009)
    8. Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). (PubMed id 19639654)1, 2 Morisaki H.... Morisaki T. (Hum. Mutat. 2009)
    9. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    10. Transcriptomic and proteomic analyses of rhabdomyosarcoma cells reveal differential cellular gene expression in response to enterovirus 71 infection. (PubMed id 16548883)1, 2 Leong W.F. and Chow V.T. (Cell. Microbiol. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 59 HGNC: 130 AceView: ACTA2 Ensembl:ENSG00000107796 euGenes: HUgn59
    ECgene: ACTA2 Kegg: 59 H-InvDB: ACTA2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ACTA2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ACTA2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACTA2 gene:
    Search GeneIP for patents involving ACTA2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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