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FLASH GENE
Symbol DSG2 contributors: mct/npt/pgu - updated : 05-03-2019
HGNC name desmoglein 2
HGNC id 3049
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four cadherin domains
  • C-terminal fragment regulating apoptosis and DSG2 protein levels , C-terminal unique region (Dsg unique region [DUR]), that stabilized DSG2 at the cell surface by inhibiting its internalization and promoted strong intercellular adhesion
  • its cytoplasmic tail interacts with a series of proteins that are in direct contact with regulators of cell adhesion and intercellular junctions
    • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • cadherin superfamily of calcium dependent cell-adhesion molecule
    • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,desmosome
    basic FUNCTION
  • required for cell adhesion and desmosome formation
  • involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion
  • regulates intestinal epithelial cell apoptosis driven by cysteine proteases during physiological differentiation and inflammation
  • transmembrane cadherin of the desmosomal cell-cell adhesion structure
  • potential novel marker for epithelial-derived malignancies
  • DSG2-mediated adhesion affects tight junction integrity and is required to maintain intestinal epithelial barrier properties
  • role in mediating intercellular desmosomal adhesion, and regulates mitogenic signaling that may promote cancer development and progression
  • DSG2 and DSC2 both exhibit microtubule-dependent transport in epithelial cells but use distinct motors to traffic to the plasma membrane
  • is less important than DSG3 for keratinocyte cohesion
  • DSG2 and DSC2 play opposing roles in controlling colonic carcinoma cell proliferation through differential effects on EGFR signaling
  • plays a critical role in cardiomyocyte cohesion and function
  • independent from its classical function as a component of desmosomes, also plays a critical role in the vasculature
  • beside its adhesion function, regulates intestinal barrier function via MAPK14 signalling
    • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of desmosome
    • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
    • protein
  • interacting with CASP3 (apoptotic processing of DSG2 is mediated by caspase 3 in epithelial cells)
  • attachment receptor for adenovirus serotypes Ad3, Ad7, Ad11 and Ad14
  • associates with CAV1, the major protein of specialized membrane microdomains called caveolae, which functions in both membrane protein turnover and intracellular signaling
  • LGALS3 regulates DSG2 and intestinal epithelial intercellular adhesion
    • cell & other
    REGULATION
    Other cleaved by cysteine proteases during the onset of intestinal epithelial cell (IEC) apoptosis
    palmitoylation of DSG2 regulates protein transport to the plasma membrane
    ASSOCIATED DISORDERS
    corresponding disease(s) ARVD10 , CMD1BB
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    with epithelial differentiation
    constitutional     --over  
    in epidermal keratinocytes deregulates multiple signaling pathways associated with increased growth rate, anchorage-independent cell survival, and the development of skin tumors
    tumoral     --over  
    in a series of epithelial malignancies, including gastric cancer, squamous cell carcinomas, melanoma, metastatic prostate cancer
    tumoral     --low  
    were significantly decreased in oral squamous cell carcinoma cells that expressed SNAIl
    tumoral     --other  
    aberrantly expressed in human skin carcinomas
    tumoral        
    silencing of DSG2 resulted in loss of cell cohesion and enhanced migration, and invasion of pancreatic adenocarcinoma cells
    Susceptibility to dilated cardiomyopathy
    Variant & Polymorphism other polymorphisms increasing the risk of dilated cardiomyopathy
    Candidate gene potential novel marker for epithelial-derived malignancies
    Marker
    Therapy target
    ANIMAL & CELL MODELS