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FLASH GENE
Symbol DSG2 contributors: mct/npt/pgu - updated : 05-03-2019
HGNC name desmoglein 2
HGNC id 3049
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