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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
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