Gene Information
desmocollin 2 [Source:HGNC Symbol;Acc:HGNC:3036]
DSC2 variants are associated with 3 diseases including familial isolated arrhythmogenic ventricular dysplasia, left dominant form and familial isolated arrhythmogenic ventricular dysplasia, biventricular form and 1 others, with 14 documented clinical phenotypes.
The DSC2 gene is associated with 3 medical conditions, including:
Research has identified 14 phenotypic features associated with DSC2 variants:
Sudden cardiac death
HP:0001645
Ventricular arrhythmia
HP:0004308
Palmoplantar keratoderma
HP:0000982
Right ventricular cardiomyopathy
HP:0011663
Autosomal recessive inheritance
HP:0000007
Palpitations
HP:0001962
Syncope
HP:0001279
Middle age onset
HP:0003596
Autosomal dominant inheritance
HP:0000006
Juvenile onset
HP:0003621
Late onset
HP:0003584
Woolly hair
HP:0002224
Dyspnea
HP:0002094
Young adult onset
HP:0011462
ClinVar contains 10 variants associated with DSC2. Below are some notable variants:
NM_024422.6(DSC2):c.119C>T (p.Pro40Leu)
Uncertain significanceVCV004528258
Review: criteria provided, single submitter
NM_024422.6(DSC2):c.1889-3C>T
VCV004430945
NM_024422.6(DSC2):c.650C>T (p.Thr217Ile)
Uncertain significanceVCV004278732
Review: criteria provided, single submitter
NM_024422.6(DSC2):c.1397A>G (p.Asp466Gly)
Uncertain significanceVCV004088228
Review: criteria provided, single submitter
NM_024422.6(DSC2):c.550A>C (p.Asn184His)
Uncertain significanceVCV004087895
Review: criteria provided, single submitter
There are 121 publications about DSC2 indexed in PubMed. Below are some recent papers:
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
Epstein-Barr virus exploits desmocollin 2 as the principal epithelial cell entry receptor.
Wang H, Mou Z, Yeo YY
PMID: 41006833
•
2025 Nov
•
Nat Microbiol
Empagliflozin Preserves Cardiomyocyte Structural Homeostasis via the Stabilization of the Integrin α5-Desmocollin-2 Adhesion Axis in Sepsis-Induced Cardiomyopathy.
Qiao G, Lu Y, Wu J
PMID: 41002417
•
2025 Sep 16
•
Cells
Diagnostic and Prognostic Significance of Exercise Stress Testing in Desmosomal Arrhythmogenic Cardiomyopathy.
Castrichini M, Neves R, Garmany R
PMID: 40910968
•
2025 Aug 28
•
JACC Clin Electrophysiol
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Last updated: 11/20/2025