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FLASH GENE
Symbol ACTA2 contributors: mct/npt - updated : 04-11-2015
HGNC name actin, alpha 2, smooth muscle, aorta
HGNC id 130
Corresponding disease
MSMD1 multisystemic smooth muscle dysfunction syndrome 1
MYMY5 Moyamoya disease susceptibility 5
TAAD4 thoracic aortic aneurysm with aortic dissection 4
Location 10q23.31      Physical location : 90.694.831 - 90.751.147
Synonym name
  • alpha-cardiac actin
  • growth-inhibiting gene 46
  • alpha 2 actin
  • Synonym symbol(s) ACTSA, AAT6, ACTVS, MYMY5
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    STRUCTURE 56.32 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC387697 10 LOC387697 LOC387698 10 similar to KIAA2020 protein LOC118945 10q23.31 similar to Cathepsin L preproprotein MINPP1 10q23.3 multiple inositol polyphosphate histidine phosphatase, 1 PAPSS2 10q23-q23.2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 FLJ14600 10q23.31 hypothetical protein FLJ14600 MGC35136 10q23.31 hypothetical protein MGC35136 PTEN 10q23.3 phosphatase and tensin homolog (mutated in multiple advanced cancers 1) FLJ11218 10q23.31 hypothetical protein FLJ11218 LOC142910 10q23.31 similar to Triacylglycerol lipase, gastric precursor (Gastric lipase) (GL) LOC389992 10 similar to ribosomal protein L7 LIPF 10q23.33 lipase, gastric LOC118934 10q23.31 similar to hypothetical protein 9930115F20 LOC389993 10 similar to lipase A precursor; Lipase A, lysosomal acid, cholesterol esterase LOC340654 10q23.31 similar to bA304I5.1 (novel lipase) MGC22805 10q23.31-q23.32 hypothetical protein MGC22805 AMSH-LP 10q23.33 associated molecule with the SH3 domain of STAM (AMSH) like protein DKFZp761K1824 10q23.32 hypothetical protein DKFZp761K1824 ACTA2 10q22.3-q23.1 actin, alpha 2, smooth muscle, aorta TNFRSF6 10q24.1 tumor necrosis factor receptor superfamily, member 6 CH25H 10q23 cholesterol 25-hydroxylase LIPA 10q23.2-q23.3 lipase A, lysosomal acid, cholesterol esterase (Wolman disease) IFIT2 10q23.3 interferon-induced protein with tetratricopeptide repeats 2 IFIT4 10q23.3 interferon-induced protein with tetratricopeptide repeats 4 LOC389994 10 similar to Interferon-induced protein with tetratricopeptide repeats 1 (IFIT-1) (Interferon-induced 56 kDa protein) (IFI-56K) LOC387699 10 similar to Interferon-induced protein with tetratricopeptide repeats 1 IFIT1 10q25-q26 interferon-induced protein with tetratricopeptide repeats 1 IFIT5 10q23.3 interferon-induced protein with tetratricopeptide repeats 5 LOC387700 10 similar to expressed sequence AW210596 PANK1 10q22.3-q23 pantothenate kinase 1 FLJ37201 10q23.32 hypothetical protein FLJ37201 MPHOSPH1 10q23.33 M-phase phosphoprotein 1 LOC119358 10q23.32 similar to Small nuclear ribonucleoprotein Sm D2 (snRNP core protein D2) (Sm-D2)
    RNA
    TRANSCRIPTS type messenger
    text variants 1 and 2 encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1798 42 377 - Azuma (2009)
    9 - 1415 42 377 - Azuma (2009)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselsaorta    Homo sapiens
    Digestivestomach   highly
    Endocrinepancreas   highly
    Lymphoid/Immunespleen   highly
    Reproductivefemale systemuterus  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose   
    Muscularsmooth  highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • actin family
  • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • structural protein, actin, alpha 2
  • major constituent of the contractile apparatus, involved in cell motility, structure and integrity
  • playing a role in adult aortic endothelium and possible association with progression of atherosclerosis (Azuma 2009)
  • most abundant protein in the smooth muscle cells that populate the affected arteries and participates in cell proliferation, migration, and force transduction
  • specifically mediates myoepithelial cell contraction during lactation and this actin isoform therefore exhibits functional specificity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • cooperative assembly of the dimeric PURB repressor on the sense strand of the ACTA2 enhancer is dictated by the association of each subdomain with distinct purine-rich binding sites within the enhancer
  • AKT1 mediated TGFB1-induced ACTA2 synthesis through the contractile gene transcription factors myocardin and serum response factor (SRF)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TAAD4 , MYMY5 , MSMD1
    Susceptibility
  • to occlusive vascular diseases, specifically premature coronary artery disease
  • to Moyamoya disease [MMD]
  • Variant & Polymorphism other inappropriate proliferation of Smooth muscle cells as a result of an ACTA2 mutation may represent a novel pathogenetic pathway contributing to occlusive vascular disease (Guo 2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Acta2(-/-) mice showed increased neointimal formation following vascular injury
  • Acta2 deficient mice have a remarkable mammary phenotype such that dams lacking Acta2 are unable to nurse their offspring effectively