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FLASH GENE
Symbol DSG3 contributors: mct - updated : 22-08-2014
HGNC name desmoglein 3 (pemphigus vulgaris antigen)
HGNC id 3050
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an intracellular anchor (IA) region, necessary for complex formation with CTNND1, and to maintain free DSG3 at the cell surface before it is integrated into desmosomes
    • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • cadherin superfamily of calcium dependent cell-adhesion molecule
    • CATEGORY adhesion , antigen
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,desmosome
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • required for cell adhesion and desmosome formation
  • critical for development of the epidermis and physiologic terminal differentiation of keratinocytes
  • DSG2 is less important than DSG3 for keratinocyte cohesion
    • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of desmosome
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
    • protein
  • associates wirh CTNND1, through the membrane proximal region (corresponding to AAs 641-714) in the intracellular anchor (IA) region of DSG3
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    in Pemphigus vulgaris, autoantibodies generated target the desmosomal cadherin desmoglein-3 (DSG3)
    tumoral     --over  
    in head neck cancer
    Susceptibility to pemphigus vulgaris (PV) and herpetiform pemphigus, (autoantigen)
    Variant & Polymorphism other genetic variation may be an additive risk factor predisposing to PV
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhead and neck 
    target in the development of adjuvant therapy for head neck cancer
    ANIMAL & CELL MODELS