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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
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