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FLASH GENE

Symbol

DSG2

contributors: mct/npt/pgu - updated : 05-03-2019

HGNC name	desmoglein 2
HGNC id	3049

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ARVD10 arrhythmogenic right ventricular dysplasia, famililal, 10 CMD1BB Cardiomyopathy, dilated, 1BB
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

regionally located

clustered with DSG1, DSG3 and desmocollins DSC1, DSC2, DSC3

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001943 15 - 5677 NP_001934 - 1118 - 1996 8641550

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Homo sapiens Digestive esophagus       highly   intestine       highly Homo sapiens   mouth tongue     highly Endocrine parathyroid       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac myocardium   Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Digestive enterocyte Homo sapiens Digestive epithelial cell Homo sapiens Muscular myocyte 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
	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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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