My NCBISign In

Display Settings:

Format

Send to:

Choose Destination

    ACTA2 actin, alpha 2, smooth muscle, aorta [ Homo sapiens ]

    Gene ID: 59, updated on 20-May-2012
    Help top of page

    Summary

    Official Symbol
    ACTA2provided by HGNC
    Official Full Name
    actin, alpha 2, smooth muscle, aortaprovided by HGNC
    Primary source
    HGNC:130
    Locus tag
    GIG46
    See related
    Ensembl:ENSG00000107796; HPRD:00031; MIM:102620; Vega:OTTHUMG00000018700
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AAT6; ACTSA; MYMY5
    Summary
    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]
    Help top of page

    Genomic context

    Location :
    10q23.3
    Sequence :
    Chromosome: 10; NC_000010.10 (90694831..90751147, complement)
    See ACTA2 in Epigenomics, MapViewer

    Chromosome 10 - NC_000010.10Genomic Context describing neighboring genes Neighboring gene STAM binding protein-like 1 Neighboring gene uncharacterized LOC100132116 Neighboring gene FAS antisense RNA 1 (non-protein coding) Neighboring gene Fas (TNF receptor superfamily, member 6) Neighboring gene microRNA 4679-2 Neighboring gene microRNA 4679-1

    Help top of page

    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
    Helptop of page

    Bibliography

    Related articles in PubMed

    1. Substratum topography modulates corneal fibroblast to myofibroblast transformation. Myrna KE, et al. Invest Ophthalmol Vis Sci, 2012. PMID 22232431.
    2. Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing. Sakai H, et al. Hum Genet, 2012 Apr. PMID 22001912.
    3. Global identification of modular cullin-RING ligase substrates. Emanuele MJ, et al. Cell, 2011 Oct 14. PMID 21963094.
    4. Effect of ultrasound irradiation on α-SMA and TGF-β1 expression in human dermal fibroblasts. Maeshige N, et al. Kobe J Med Sci, 2011 May 11. PMID 21937873.
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.

    See all (92) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Data show that homozygous and compound heterozygous changes found in PLOD1 and SLC2A10 may confer autosomal recessive effects, and three MYH11, ACTA2 and COL3A1 heterozygous variants were considered as putative pathogenic gene alterations.
      Title: Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing.
    2. nanoscale topographic features modulate TGFbeta-induced myofibroblast differentiation and alphaSMA expression, possibly through upregulation of Smad7.
      Title: Substratum topography modulates corneal fibroblast to myofibroblast transformation.
    3. One new mutation (R179H, heterozygous) in exon 6 of ACTA2 is found in one patient with Moyamoya disease.
      Title: Analysis of ACTA2 in European Moyamoya disease patients.
    4. Ultrasound irradiation promotes alpha-SMA and TGF-beta1 expression in human dermal fibroblasts.
      Title: Effect of ultrasound irradiation on α-SMA and TGF-β1 expression in human dermal fibroblasts.
    5. TGFBR1, TGFBR2, and ACTA2 mutations were found in 4 families with thoracic aortic aneurysms and dissections and predominantly fusiform intracranial aneurysms.
      Title: Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms.
    6. Data show that TGF-beta1 stimulated cell proliferation, enhanced the gene expression of type I and III collagen, and alpha-SMA.
      Title: Isolation of mesenchymal stem cells from human ligamentum flavum: implicating etiology of ligamentum flavum hypertrophy.
    7. in our cohort, Renal fibromuscular dysplasia was not caused by ACTA2
      Title: Renal FMD may not confer a familial hypertensive risk nor is it caused by ACTA2 mutations.
    8. The Rho signaling pathway may mediate SiO induced alpha-SMA expression in human bronchial epithelial cells.
      Title: Effect of Rho signaling pathway on SiO₂ induced α-SMA expression in human bronchial epithelial cells.
    9. Report reversal of TGF-beta1 stimulation of alpha-smooth muscle actin and extracellular matrix components by cyclic AMP in Dupuytren's-derived fibroblasts.
      Title: Reversal of TGF-β1 stimulation of α-smooth muscle actin and extracellular matrix components by cyclic AMP in Dupuytren's-derived fibroblasts.
    10. Plasminogen activator inhibitor-2 (PAI-2) secreted from activated mast cells induces alpha-smooth muscle actin (alpha-SMA) expression in dermal fibroblasts
      Title: Plasminogen activator inhibitor-2 (PAI-2) secreted from activated mast cells induces α-smooth muscle actin (α-SMA) expression in dermal fibroblasts.
    Submit: New GeneRIF Correction See all (38)
    Help top of page

    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Aortic aneurysm, familial thoracic 6

    Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.

    Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.

    Moyamoya disease 5

    Multisystemic smooth muscle dysfunction syndrome

    Help top of page

    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env The interaction of the long cytoplasmic tail of HIV-1 gp41 with the carboxy-terminal regulatory domain of p115-RhoGEF inhibits p115-mediated actin stress fiber formation and activation of serum response factor (SRF) PubMed
    Tat tat In Jurkat cells expressing HIV-1 Tat, decreased expression levels are found for basic cytoskeletal proteins such as actin, beta-tubulin, annexin, cofilin, gelsolin, and Rac/Rho-GDI complex PubMed
    tat HIV-1 Tat induces actin cytoskeletal rearrangements through p21-activated kinase 1 (PAK1) and downstream activation of the endothelial NADPH oxidase, an effect that is lost by introduction of mutations into the Tat cysteine-rich or basic domains PubMed
    matrix gag The localization of the HIV-1 reverse transcription complex to actin microfilaments is mediated by the interaction of a reverse transcription complex component (HIV-1 Matrix) with actin, but not vimentin (intermediate filaments) or tubulin (microtubules) PubMed
    retropepsin gag-pol Actin, one of the most abundant proteins of the cell, is hydrolyzed by the human immunodeficiency virus type 1 (HIV-1) protease during acute infection of cultured human T lymphocytes PubMed
    gag-pol HIV-1 protease cleaves actin in vitro at amino acid residues 66-67, 94-95, and 126-127 PubMed
    reverse transcriptase gag-pol The localization of the HIV-1 reverse transcription complex to actin microfilaments is mediated by the interaction of a reverse transcription complex component (HIV-1 Matrix) with actin, but not vimentin (intermediate filaments) or tubulin (microtubules) PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Help top of page

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_001604.1 NP_057864.1 tax    BIND  PubMed Tax interacts with Actin. 
    P62736 P50991 CCT4    HPRD  PubMed  
    P62736 P48643 CCT5    HPRD  PubMed  
    P62736 P23528 CFL1    HPRD  PubMed  
    P62736 Q92793 CREBBP    HPRD  PubMed  
    P62736 P24855 DNASE1    HPRD  PubMed  
    P62736 Q09472 EP300    HPRD  PubMed  
    P62736 P02774 GC    HPRD  PubMed  
    P62736 Q8N4C8 MINK1    HPRD  PubMed  
    P62736 P05976 MYL1    HPRD  PubMed  
    P62736 Q99972 MYOC    HPRD  PubMed  
    P62736 Q9Y5K3 PCYT1B    HPRD  PubMed  
    P62736 Q05655 PRKCD    HPRD  PubMed  
    P62736 P04278 SHBG    HPRD  PubMed  
    P62736 Q13424 SNTA1    HPRD  PubMed  
    P62736 P62328 TMSB4X    HPRD  PubMed  
    BioGRID:106574 BioGRID:115826 CCT4    BioGRID  PubMed Co-crystal Structure 
    BioGRID:106574 BioGRID:116603 CCT5    BioGRID  PubMed Co-crystal Structure 
    BioGRID:106574 BioGRID:107777 CREBBP    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106574 BioGRID:108276 EGFR    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106574 BioGRID:108347 EP300    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106574 BioGRID:115783 NOP56    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106574 BioGRID:114854 PCYT1B    BioGRID  PubMed Co-crystal Structure 
    BioGRID:106574 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106574 BioGRID:116168 YWHAQ    BioGRID  PubMed Affinity Capture-MS 
    Help top of page

    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
      Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
    • Smooth Muscle Contraction, organism-specific biosystem (from REACTOME)
      Smooth Muscle Contraction, organism-specific biosystemLayers of smooth muscle cells can be found in the walls of numerous organs and tissues within the body. Smooth muscle tissue lacks the striated banding pattern characteristic of skeletal and cardiac ...
    • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
      Striated Muscle Contraction, organism-specific biosystem
      Striated Muscle Contraction
    • Vascular smooth muscle contraction, organism-specific biosystem (from KEGG)
      Vascular smooth muscle contraction, organism-specific biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
    • Vascular smooth muscle contraction, conserved biosystem (from KEGG)
      Vascular smooth muscle contraction, conserved biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    glomerular mesangial cell development IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    muscle contraction TAS
    Traceable Author Statement
    more info
    		  
    regulation of blood pressure IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to virus IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    vascular smooth muscle contraction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    smooth muscle contractile fiber IEA
    Inferred from Electronic Annotation
    more info
    		  
    Help top of page

    General protein information

    Preferred Names
    actin, aortic smooth muscle
    Names
    actin, aortic smooth muscle
    alpha 2 actin
    alpha-actin-2
    alpha-cardiac actin
    growth-inhibiting gene 46
    cell growth-inhibiting gene 46 protein
    Help top of page

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011541.1 RefSeqGene

      Range
      5001..61317
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001141945.1 → NP_001135417.1  actin, aortic smooth muscle

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AY692464, DC304647, DC354672, DC385559
      Consensus CDS
      CCDS7392.1
      UniProtKB/TrEMBL
      D2JYH4
      UniProtKB/Swiss-Prot
      P62736
      Related
      ENSP00000402373, ENST00000458208
      Conserved Domains (2) summary
      cd00012
      Location:9 – 375
      Blast Score: 1499
      ACTIN; Actin; An ubiquitous protein involved in the formation of filaments that are a major component of the cytoskeleton. Interaction with myosin provides the basis of muscular contraction and many aspects of cell motility. Each actin protomer binds one ...
      pfam00022
      Location:5 – 377
      Blast Score: 1717
      Actin; Actin

    2. NM_001613.2 → NP_001604.1  actin, aortic smooth muscle

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC093052, BP379410, BQ029841
      Consensus CDS
      CCDS7392.1
      UniProtKB/TrEMBL
      D2JYH4
      UniProtKB/Swiss-Prot
      P62736
      Related
      ENSP00000224784, OTTHUMP00000020042, ENST00000224784, OTTHUMT00000049264
      Conserved Domains (2) summary
      cd00012
      Location:9 – 375
      Blast Score: 1499
      ACTIN; Actin; An ubiquitous protein involved in the formation of filaments that are a major component of the cytoskeleton. Interaction with myosin provides the basis of muscular contraction and many aspects of cell motility. Each actin protomer binds one ...
      pfam00022
      Location:5 – 377
      Blast Score: 1717
      Actin; Actin

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000010.10 Reference GRCh37.p5 Primary Assembly

      Range
      90694831..90751147, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000142.1 Alternate HuRef

      Range
      84329337..84385614, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL157394.15 CAI13864.1
      CAI13865.1
    genomic CH471066.2 EAW50153.1
      EAW50154.1
      EAW50155.1
    genomic D00618.1 BAA00492.1
    genomic GU143396.1 ACZ58370.1
    genomic K01741.1 AAA51586.1
    genomic K01742.1 AAA51586.1
    genomic K01743.1 AAA51586.1
    genomic K01744.1 AAA51586.1
    genomic K01745.1 AAA51586.1
    genomic K01746.1 AAA51586.1
    genomic K01747.1 AAA51586.1
    genomic M33216.1 AAA60560.1
    mRNA AK300664.1 BAG62350.1
    mRNA AK313294.1 BAG36101.1
    mRNA AY692464.1 AAW29811.1
    mRNA BC017554.2 AAH17554.1
    mRNA BC093052.1 AAH93052.1
    mRNA BP379410.1 None
    mRNA BQ029841.1 None
    mRNA CR536518.1 CAG38756.1
    mRNA DC304647.1 None
    mRNA DC354672.1 None
    mRNA DC385559.1 None
    mRNA J05192.1 AAA51577.1
    mRNA X13839.1 CAA32064.1
    other-genetic DQ892391.2 ABM83317.1
    other-genetic DQ895606.2 ABM86532.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P62736.1 GenPept UniProtKB/Swiss-Prot:P62736
    Q13707 GenPept UniProtKB/TrEMBL:Q13707
    Q5T9N7 GenPept UniProtKB/TrEMBL:Q5T9N7
    Help top of page

    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Links

      Links to other resources

      General information

      Related sites

      Feedback

      Subscription

      Recent activity

      Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...