Gene Information
desmoglein 2 [Source:HGNC Symbol;Acc:HGNC:3049]
DSG2 variants are associated with 4 diseases including familial isolated arrhythmogenic ventricular dysplasia, right dominant form and familial isolated arrhythmogenic ventricular dysplasia, biventricular form and 2 others, with 26 documented clinical phenotypes.
The DSG2 gene is associated with 4 medical conditions, including:
familial isolated arrhythmogenic ventricular dysplasia, right dominant form
MONDO:0017403
familial isolated arrhythmogenic ventricular dysplasia, biventricular form
MONDO:0017402
familial isolated dilated cardiomyopathy
MONDO:0700335
familial isolated arrhythmogenic ventricular dysplasia, left dominant form
MONDO:0017401
Research has identified 26 phenotypic features associated with DSG2 variants:
Young adult onset
HP:0011462
Middle age onset
HP:0003596
Left bundle branch block
HP:0011713
Chest pain
HP:0100749
Woolly hair
HP:0002224
Dilated cardiomyopathy
HP:0001644
Autosomal recessive inheritance
HP:0000007
Sudden cardiac death
HP:0001645
Epsilon wave
HP:0034304
Congestive heart failure
HP:0001635
Late onset
HP:0003584
Premature ventricular contraction
HP:0006682
Adult onset
HP:0003581
Ventricular arrhythmia
HP:0004308
Right ventricular cardiomyopathy
HP:0011663
ClinVar contains 10 variants associated with DSG2. Below are some notable variants:
NM_001943.5(DSG2):c.3239G>A (p.Gly1080Glu)
Uncertain significanceVCV004528069
Review: criteria provided, single submitter
NM_001943.5(DSG2):c.1424-1G>A
Likely pathogenicVCV004291740
Review: criteria provided, single submitter
NM_001943.5(DSG2):c.2176_2188del (p.Ser726fs)
Likely pathogenicVCV004281851
Review: criteria provided, single submitter
NM_001943.5(DSG2):c.2968A>G (p.Arg990Gly)
Uncertain significanceVCV004088106
Review: criteria provided, single submitter
NM_001943.5(DSG2):c.2402A>C (p.Gln801Pro)
Uncertain significanceVCV004086434
Review: criteria provided, single submitter
There are 250 publications about DSG2 indexed in PubMed. Below are some recent papers:
Desmoglein-2 deficiency results in cardiac dysfunction by compromising both Z-disc- and intercalated disc-mediated mechanotransduction.
Landim-Vieira M, Jani VP, Shiel E
PMID: 41256378
•
2025 Oct 4
•
bioRxiv
Arrhythmogenic cardiomyopathy in children, on the link between injurious mutations and inflammation: Two case reports and review of the literature.
Nikitina E, Kofeynikova O, Zlotina A
PMID: 41255689
•
2025 Dec 9
•
World J Clin Pediatr
The desmosomal cadherin Desmoglein-2 controls extracellular matrix expression and remodeling via NF-κB signaling in keratinocytes.
Hunter SE, Patel ZT, Mateo B
PMID: 41244075
•
2025
•
Front Cell Dev Biol
TGF-β signaling and tumor microenvironment dynamics in bladder cancer progression post-BCG therapy: a longitudinal single-nucleus RNA-seq study.
Lee SY, Lee YH, Kim TM
PMID: 41214597
•
2025 Nov 10
•
BMC Cancer
Acute Binge Alcohol Increases Risk of Arrhythmias and Myocardial Fibrosis in a Mouse Model of Arrhythmogenic Cardiomyopathy.
Shiel EA, Farra W, Medarev S
PMID: 41212587
•
2025 Nov 10
•
Am J Physiol Heart Circ Physiol
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Last updated: 11/20/2025