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FLASH GENE
Symbol DSG2 contributors: mct/npt/pgu - updated : 22-08-2014
HGNC name desmoglein 2
HGNC id 3049
Corresponding disease
ARVD10 arrhythmogenic right ventricular dysplasia, famililal, 10
Location 18q12.1      Physical location : 29.078.026 - 29.128.813
Synonym symbol(s) HDGC, CDHF5, ARVC10, MGC117034, MGC117036, MGC117037
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
text clustered with DSC1, DSC2, DSC3 and desmogleins DSG1, DSG3
STRUCTURE 50.79 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map see DSG1 ,TTR
Physical map
DSC3 18q12.1 desmocollin 3 DSC2 18q12.1 desmocollin 2 DSC1 18q12.2 desmocollin 1 DSG1 18q12.1 desmoglein 1 DSG4 18q12.1 desmoglein 4 DSG3 18q12.1 desmoglein 3 (pemphigus vulgaris antigen) DSG2 18q12.1 desmoglein 2 TTR 18q12.1-q12.2 transthyretin (prealbumin, amyloidosis type I) B4GALT6 18q11 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 LOC390845 18 similar to KIAA0563-related gene LOC390846 18 similar to 27 kDa Golgi SNARE protein (Golgi SNAP receptor complex member 2) (Membrin) MCART2 18q12.1 mitochondrial carrier triple repeat 2 KIAA1012 18q11.2 mitochondrial carrier triple repeat 2 LOC342705 18q12.1 similar to 6-phosphogluconate dehydrogenase, decarboxylating LOC390847 18 similar to epsin 2 isoform a; Eps15 binding protein RNF125 18q12.1 ring finger protein 125 LOC390848 18 similar to 40S ribosomal protein S15a RNF138 18q12.1 ring finger protein 138 MEP1B 18q12.2-q12.3 meprin A, beta FLJ21610 KIAA1384 18q12.1 KIAA1384 protein LOC374864 18q12.1 hypothetical protein LOC374864 LOC147354 18q12.1 similar to additional sex combs like 2; polycomb group protein ASXH2
regionally located clustered with DSG1, DSG3 and desmocollins DSC1, DSC2, DSC3
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 5677 - 1118 - 1996 8641550
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   highly
 intestine   highly Homo sapiens
 mouthtongue  highly
Endocrineparathyroid   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/lining   
cells
SystemCellPubmedSpeciesStageRna symbol
Digestiveepithelial cell Homo sapiens
cell lineage
cell lines
fluid/secretion in all tissues possessing desmosomes, including human stratified and single-layered polar epithelia, as well as non-epithelial tissues such as myocardium and lymph node follices
at STAGE
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
  • 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
    ASSOCIATED DISORDERS
    corresponding disease(s) ARVD10
    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
    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