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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACTA2 Gene

protein-coding   GIFtS: 67
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)
About This Section

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     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 thoracic aortic aneurysm, and moyamoya disease, and among its related super-pathways are Clathrin-dependent protein traffic and Muscle contraction. GO annotations related to this gene include ATP binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ACTA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm, cytoskeleton
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:

  • UniProtKB: Oxidation of Met-46 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament
    depolymerization. Methionine sulfoxide is produced stereospecifically, but it is not known whether the
    (S)-S-oxide or the (R)-S-oxide is produced (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P62736

  • ACTA2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACTA2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001135417.1  NP_001604.1  

    ENSEMBL proteins: 
     ENSP00000224784   ENSP00000398239   ENSP00000396730   ENSP00000402373  
    Reactome Protein details: P62736
    Human Recombinant Protein Products for ACTA2: 
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    ProSpec Recombinant Protein for ACTA2
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA12355421
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton ----
    GO:0015629actin cytoskeleton IEA--
    GO:0030485smooth muscle contractile fiber IEA--

    ACTA2 for ontologies           About GeneDecksing



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

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for ACTA2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ACTA2

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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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 Contraction0.87
    Smooth Muscle Contraction0.43
    Muscle contraction0.65
    3Development Slit-Robo signaling
    Development Slit-Robo signaling0.92
    Cytoskeleton remodeling Slit-Robo signaling0.92
    4Actin Nucleation by ARP-WASP Complex
    Actin Nucleation by ARP-WASP Complex0.66
    CDC42 Pathway0.41
    Actin Nucleation and Branching0.66
    RhoA Pathway0.35
    5Integrin Pathway
    Integrin Pathway0.67
    Transendothelial Migration of Leukocytes0.38
    FAK1 Signaling0.67

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/7 EMD Millipore Pathways for ACTA2 (see all 7)
        Clathrin-dependent protein traffic
    Cell adhesion Gap junctions
    Cell adhesion Tight junctions
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Cytoskeleton remodeling RalA regulation pathway

    5/43 Downloadable PowerPoint Slides of QIAGEN 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

    5/8 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


    2        Reactome Pathways for ACTA2
        Smooth Muscle Contraction
    Muscle contraction


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


    ACTA2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACTA2

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

    5/199 Interacting proteins for ACTA2 (P627362, 3 ENSP000002247844) via UniProtKB, MINT, STRING, and/or I2D (see all 199)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTN2P356092, 3, ENSP000003555374MINT-7899812 I2D: score=1 STRING: ENSP00000355537
    TTNQ8WZ422, 3MINT-7899812 I2D: score=2 
    ENSG00000204490P013753I2D: score=1 
    ENSG00000206439P013753I2D: score=1 
    ENSG00000223952P013753I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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]

    Search CenterWatch for drugs/clinical trials and news about ACTA2 / ACTA

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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 

    24/43 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 

    24/1088 AceView cDNA sequences (see all 1088):

    CK905905 BQ006278 D58243 AI754358 CK905906 BE839024 BG939378 BM819420 
    BP381973 AA348557 AL079915 BF127509 CD677711 BF058479 BP373433 BU069524 
    BM694919 BU681532 AL048846 BP340906 AA295843 C05055 BU782644 CD678479 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ACTA2 expression in normal human tissues (normalized intensities)      ACTA2 embryonic expression: see
    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 
     5/33 selected tissues (see all 33) fully expand
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 13 entries
             Vascular Smooth Muscle Cells Aortic Arch Arteries
             Smooth muscle-like cells ( Isolation of vascular cells from embryoid bodies (EBs)...
             Human umbilical Smooth Muscle (HUSM)   
     
     Heart (Cardiovascular System)    fully expand to see all 11 entries
             Vascular Smooth Muscle Cells Aortic Arch Arteries
             Heart Tube
             Cardiomyocyte-like progenitor cells ( Derivation of cardiomyocytes from pluripotent...
             Coronary Artery Smooth Muscle Cells (CASMC)   
     
     Bone (Muscoskeletal System)    fully expand to see all 7 entries
             Adventitial Reticular Cells Bone Marrow
             Human fetal bone marrow-derived mesenchymal stromal cells
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
             Human Calvarial Osteoblasts (HCO)   
     
     Uncategorized (Uncategorized)    fully expand to see all 6 entries
             PureStem Progenitor E72
             Myofibroblasts/mesenchymal-like cells ( Derivation of neural crest cells and their...
     
     Endothelium (Cardiovascular System)    fully expand to see all 5 entries
             Pericytes Microvessels
             Endothelial-like cells ( Derivation and purification of endothelial precursor cells...

    See ACTA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACTA2

    SOURCE GeneReport for Unigene cluster: Hs.500483
        SABiosciences Expression via Pathway-Focused 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

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACTA2 gene from 9/17 species (see all 17)    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_007392.21  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 --
    ACTA26
    Uncharacterized protein
    97(a)
    100(a)
    possible ortholog
    1 ↔ 1
    GL343283.1(767145-811544)
    GL343246.1(163717-183328)
    zebrafish
    (Danio rerio)
    Actinopterygii acta21 actin, alpha 2, smooth muscle, aorta 84.08(n)
    98.94(a)
      322509  NM_212620.1  NP_997785.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Act5C1 , 3 cytoskeleton organization and
    biogenesis structural more3
    Actin 5C1
    94(a)
    (best of 7)3
    81.47(n)1
    94.41(a)1
      5C73
    315211  NM_001014725.11  NP_001014725.11 
    worm
    (Caenorhabditis elegans)
    Secernentea act-21 , 3 actin3
    Protein ACT-21
    94(a)
    (best of 5)3
    78.28(n)1
    94.68(a)1
      V(11079402-11080517)3
    1795341  NM_073417.41  NP_505818.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ACT16
    Actin, structural protein involved in cell polariz...
    86(a)
    1 → many
    VI(53260-54696)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ACT21 actin 2 72.77(n)
    85.68(a)
      821411  NM_112764.3  NP_188508.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g07181001 hypothetical protein 76.22(n)
    88.33(a)
      4333919  NM_001057621.1  NP_001051086.1 


    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)
    About This Section
    Paralogs for ACTA2 gene
    ACTG22  ACTRT22  ACTR1A2  ACTB2  ACTC12  ACTRT12  ACTG12  ACTL7A2  
    ACTBL22  ACTL7B2  ACTR1B2  ACTA12  ACTRT32  
    18/33 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1062 SNPs in ACTA2 are shown (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
    Familial aortic aneurysm thoracic 6 (AAT6)4--see VAR_0459152 N T mis40--------
    VAR_0459214
    Familial aortic aneurysm thoracic 6 (AAT6)4--see VAR_0459212 R H mis40--------
    VAR_0625814
    Familial aortic aneurysm 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
    Familial aortic aneurysm thoracic 6 (AAT6)4--see VAR_0459162 R Q mis40--------
    VAR_0625774
    Familial aortic aneurysm thoracic 6 (AAT6)4--see VAR_0625772 R H mis40--------
    VAR_0459204
    Familial aortic aneurysm thoracic 6 (AAT6)4--see VAR_0459202 R C mis40--------
    VAR_0625804
    Familial aortic aneurysm thoracic 6 (AAT6)4--see VAR_0625802 R Q mis40--------
    VAR_0459184
    Familial aortic aneurysm thoracic 6 (AAT6)4--see VAR_0459182 R C mis40--------
    VAR_0625794
    Familial aortic aneurysm 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
    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 102620   
    OMIM disorders: 611788  
    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
  • Familial aortic aneurysm 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

  • 20/34 diseases for ACTA2 (see all 34):    About MalaCards
    thoracic aortic aneurysm    moyamoya disease    familial hypertension    acta2-related thoracic aortic aneurysms and aortic dissections
    moyamoya disease 5    multisystemic smooth muscle dysfunction syndrome    aortic aneurysm    thoracic aortic aneurysms and aortic dissections
    familial thoracic aortic aneurysm and dissection    aortic disease    loeys-dietz syndrome    hemiplegia
    hypertrophic scars    cerebrovascular disease    cerebral infarction    basal cell carcinoma
    rhabdomyosarcoma    endometriosis    muscular dystrophy    glomerulonephritis

    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)
    About This Section

    PubMed articles for ACTA2 gene, integrated from 9 sources (see all 147):
    (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. (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. (2007)
    3. Risk of dissection in thoracic aneurysms associated w ith mutations of smooth muscle alpha-actin 2 (ACTA2). (PubMed id 21212136)1, 4 Disabella E....Arbustini E. (2011)
    4. Analysis of ACTA2 in European Moyamoya disease patients. (PubMed id 20970362)1, 2 Roder C.... Krischek B. (2011)
    5. De novo ACTA2 mutation causes a novel syndrome of mul tisystemic smooth muscle dysfunction. (PubMed id 20734336)1, 2 Milewicz D.M....Regalado E.S. (2010)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (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. (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. (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. (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. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 59 HGNC: 130 AceView: ACTA2 Ensembl:ENSG00000107796 euGenes: HUgn59
    ECgene: ACTA2 Kegg: 59 H-InvDB: ACTA2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ACTA2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACTA2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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