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FLASH GENE
Symbol CTNNA3 contributors: mct - updated : 15-10-2010
HGNC name catenin (cadherin-associated protein), alpha 3
HGNC id 2511
Location 10q21.3      Physical location : 67.679.724 - 69.455.949
Synonym name
  • alphaT- catenin
  • alpha-catenin-like protein
    • Synonym symbol(s) VR22, MGC26194
    DNA
    TYPE functioning gene
    SPECIAL FEATURE gene in gene
    text gene LRRTM3 in intron 7
    STRUCTURE 1776.22 kb     18 Exon(s)
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure promoter with several binding sites for cardiac and muscle-specific transcription factors (MEF2C and GATA4 each have an activating effect on the alphaT-catenin promoter)
    MAPPING cloned Y linked N status provisional
    Map cen - D10S561 - D10S1461 - CTNNA3 - D10S1606 - D10S1560 - qter
    Authors Janssens (03)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 3248 99.8 895 - 2001 11590244
    18 - 3174 99.8 895 - 2001 11590244
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   predominantly
    Nervousbraindiencephalonhypothalamus highly
     brainhindbrainmedulla oblongata highly
     spinal cord    
    Reproductivemale systemtestis  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac predominantly
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Muscularmyocyte
    Reproductiveinterstitial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    IMPRINTING maternally
    text
  • down-regulated expression in androgenetic placenta
  • preferential monoallelic expression of the maternal allele in placental tissue
    • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Ctnna3
    Homologene
    FAMILY
  • vinculin/alpha-catenin family
    • CATEGORY adhesion , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    text colocalizes with CTNNA1 at the intercalated discs of cardiomyocytes and in peritubular myoid cells of testis
    basic FUNCTION
  • involved in the organization of the actin cytoskeleton and in cell adhesion
  • necessary for the formation of stretch-resistant cell-cell adhesion complexes, in particular, muscle cells
  • influencing susceptibility to Alzheimer's disease, and the effect is dependent on APOE status
  • provides an indispensable link between a cadherin-based adhesion complex and the actin cytoskeleton, resulting in strong cell-cell adhesion
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with CTNNB1
  • STOX1–CTNNA3 interaction is direct and includes Akt-mediated phosphorylated control of nucleo-cytoplasmic shuttling and ubiquitin-mediated degradation as shared with the FOX multigene family
  • binding of CTNNA3 to plakophilin-2 is proposed to be a means of modulating and strengthening cell-cell adhesion between cardiac muscle cells
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    with monoallelic and biallelic expression patterns in tumor bladder tissue
    constitutional        
    silencing of STOX1 or CTNNA3 leads to a change in extravillous trophoblast phenotype toward a non-proliferative cell type in the early placenta
    Susceptibility
  • to late-onset Alzheimer disease(LOAD)in females
  • to toluene diisocyanate-induced asthma (TDI)
    • Variant & Polymorphism SNP
  • SNP 4360 and 4783 significatively associated with LOAD in females (SNP exhibited no interaction with the APOE-epsilon4 allele)
  • polymorphism in the 3' downstream region of CTNNA3 (rs1786929), significantly associated with the TDI-induced asthma phenotype
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS