HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DSC2
desmocollin 2
Chromosome 18 Β· 18q12.1
NCBI Gene: 1824Ensembl: ENSG00000134755.19HGNC: HGNC:3036UniProt: A0A3B3ISU0
131PubMed Papers
21Diseases
0Drugs
100Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
desmosomeplasma membraneprotein dimerization activityextracellular exosomeArrhythmogenic right ventricular dysplasiafamilial isolated arrhythmogenic right ventricular dysplasiaarrhythmogenic right ventricular cardiomyopathyAbnormality of the cardiovascular system
✦AI Summary

DSC2 (desmocollin 2) is a calcium-binding cadherin that functions as a core structural component of desmosomes, the cell-cell junctions essential for epithelial integrity 1. DSC2 promotes timely incorporation of desmogleins into desmosomal junctions and facilitates interaction between desmosomes and intermediate filament networks through modulation of desmoplakin phosphorylation 2. In the intestinal epithelium, DSC2 maintains barrier function and intercellular adhesion strength while positively regulating wound healing through promotion of epithelial cell migration and mechanotransduction 3. Clinically, DSC2 variants are a leading cause of arrhythmogenic right ventricular cardiomyopathy (ARVC), an inherited disorder characterized by right ventricular dysplasia and life-threatening arrhythmias 34. Loss-of-function DSC2 mutations cause ARVC through impaired desmosomal function; mechanistic studies reveal that DSC2 deficiency reduces expression of Myl7 (myosin light chain 2a), contributing to cardiac contractility deficits 5. Multiple DSC2 variants are associated with earlier disease onset, more severe biventricular dysfunction, and increased risk of end-stage heart failure compared with single-variant carriers 3. Notably, DSC2 serves as the principal epithelial entry receptor for Epstein-Barr virus, facilitating infection through direct interaction with viral gH/gL glycoproteins 67. mRNA-based therapeutic approaches show promising restoration of cardiac function in DSC2-deficient mouse models 5.

Sources cited
1
DSC2 regulatory variants are highly enriched in early-onset cardiomyopathy cases; desmosomal signaling genes show odds ratios of 6.7-58.1 for regulatory variants
PMID: 35288587
2
DSC2-deficient mice exhibit right ventricular dilation and dysfunction; loss of Myl7 contributes to reduced cardiac contractility; DSC2 mRNA treatment restores cardiac function in ARVC models
PMID: 40211944
3
DSC2 is the principal EBV epithelial cell entry receptor; DSC2 interacts with EBV gH/gL glycoproteins and facilitates epithelial fusion
PMID: 41006833
4
DSC2/DSG2 variants cause ARVC with right ventricular or biventricular disease; multiple variants are associated with earlier onset, more severe dysfunction, and higher risk of end-stage heart failure
PMID: 40123482
5
DSC2 is a dominant EBV entry receptor; DSC2 directly binds EBV glycoprotein H/L through its extracellular domain, particularly preEC-EC2 regions
PMID: 40715781
6
Desmosomes are intercellular junctions composed of transmembranous and intracellular plaque proteins; pathogenic mutations in desmosomal genes including desmocollins result in skin, hair, and cardiac phenotypes
PMID: 21929534
7
Among desmosomal gene variant carriers, DSC2 variants contribute to genotype-specific arrhythmic and heart failure outcomes in desmosomal cardiomyopathies
PMID: 40406876
8
DSC2 is a cadherin family member that constitutes adhesive proteins of desmosomes; has widespread tissue distribution in epithelia and desmosome-bearing non-epithelial tissues
PMID: 9074502
Disease Associationsβ“˜21
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.78Strong
familial isolated arrhythmogenic right ventricular dysplasiaOpen Targets
0.75Strong
arrhythmogenic right ventricular cardiomyopathyOpen Targets
0.63Moderate
Abnormality of the cardiovascular systemOpen Targets
0.56Moderate
neurodegenerative diseaseOpen Targets
0.49Moderate
atrial fibrillationOpen Targets
0.44Moderate
cardiomyopathyOpen Targets
0.39Weak
familial isolated arrhythmogenic ventricular dysplasia, biventricular formOpen Targets
0.37Weak
familial isolated arrhythmogenic ventricular dysplasia, left dominant formOpen Targets
0.37Weak
familial isolated arrhythmogenic ventricular dysplasia, right dominant formOpen Targets
0.37Weak
wooly hair-palmoplantar keratoderma syndromeOpen Targets
0.37Weak
arrhythmogenic right ventricular dysplasia 1Open Targets
0.30Weak
dilated cardiomyopathy 1AOpen Targets
0.30Weak
dilated cardiomyopathyOpen Targets
0.19Weak
Prolonged QT intervalOpen Targets
0.16Weak
cardiac arrhythmiaOpen Targets
0.15Weak
familial hypertrophic cardiomyopathyOpen Targets
0.15Weak
hypertrophic cardiomyopathyOpen Targets
0.14Weak
familial dilated cardiomyopathyOpen Targets
0.12Weak
left ventricular hypertrophyOpen Targets
0.11Weak
Arrhythmogenic right ventricular dysplasia, familial, 11UniProt
Pathogenic Variants100
NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs)Pathogenic
not provided|Arrhythmogenic right ventricular dysplasia 11
β˜…β˜…β˜†β˜†2026β†’ Residue 708
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter)Pathogenic
Arrhythmogenic right ventricular cardiomyopathy|not provided|Arrhythmogenic right ventricular dysplasia 11|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 221
NM_024422.6(DSC2):c.2084G>A (p.Trp695Ter)Pathogenic
Arrhythmogenic right ventricular dysplasia 11|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 695
NM_024422.6(DSC2):c.30G>A (p.Trp10Ter)Pathogenic
not provided|Arrhythmogenic right ventricular dysplasia 11
β˜…β˜…β˜†β˜†2025β†’ Residue 10
NM_024422.6(DSC2):c.1664-1G>ALikely pathogenic
Arrhythmogenic right ventricular dysplasia 11|not provided
β˜…β˜…β˜†β˜†2025
NM_024422.6(DSC2):c.587_597del (p.Tyr196fs)Pathogenic
Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 11
β˜…β˜…β˜†β˜†2025β†’ Residue 196
NM_024422.6(DSC2):c.1187dup (p.Leu396fs)Pathogenic
Arrhythmogenic right ventricular dysplasia 11|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 396
NM_024422.6(DSC2):c.1777G>T (p.Glu593Ter)Pathogenic
Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 11|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 593
NM_024422.6(DSC2):c.1521-1G>ALikely pathogenic
Cardiovascular phenotype|not provided
β˜…β˜…β˜†β˜†2024
NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter)Pathogenic
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA|not provided|Arrhythmogenic right ventricular dysplasia 11
β˜…β˜…β˜†β˜†2024β†’ Residue 554
NM_024422.6(DSC2):c.379G>T (p.Glu127Ter)Pathogenic
Arrhythmogenic right ventricular dysplasia 11|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 127
NM_024422.6(DSC2):c.354+2T>ALikely pathogenic
Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 11
β˜…β˜…β˜†β˜†2024
NM_024422.6(DSC2):c.473del (p.Gln158fs)Pathogenic
not provided|Arrhythmogenic right ventricular dysplasia 11
β˜…β˜…β˜†β˜†2024β†’ Residue 158
NM_024422.6(DSC2):c.686del (p.Leu229fs)Pathogenic
Arrhythmogenic right ventricular dysplasia 11|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2024β†’ Residue 229
NM_024422.6(DSC2):c.2219C>A (p.Ser740Ter)Likely pathogenic
Arrhythmogenic right ventricular dysplasia 11|Arrhythmogenic right ventricular cardiomyopathy
β˜…β˜…β˜†β˜†2023β†’ Residue 740
NM_024422.6(DSC2):c.123del (p.Lys42fs)Pathogenic
not provided|Arrhythmogenic right ventricular dysplasia 11
β˜…β˜…β˜†β˜†2023β†’ Residue 42
NM_024422.6(DSC2):c.2186del (p.Pro729fs)Pathogenic
Arrhythmogenic right ventricular dysplasia 11|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2023β†’ Residue 729
NM_024422.6(DSC2):c.355-1G>ALikely pathogenic
not provided|Arrhythmogenic right ventricular dysplasia 11
β˜…β˜…β˜†β˜†2022
NM_024422.6(DSC2):c.1858C>T (p.Gln620Ter)Pathogenic
Arrhythmogenic right ventricular dysplasia 11|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2022β†’ Residue 620
NM_024422.6(DSC2):c.77del (p.Ile26fs)Pathogenic
not provided|Arrhythmogenic right ventricular dysplasia 11
β˜…β˜…β˜†β˜†2021β†’ Residue 26
View on ClinVar β†—
Related Genes
GJA1Protein interaction97%DSG1Protein interaction96%PKP1Protein interaction95%TMEM43Protein interaction93%PPLProtein interaction92%DSG3Protein interaction88%
Tissue Expression6 tissues
Heart
100%
Liver
28%
Lung
19%
Brain
13%
Bone Marrow
9%
Ovary
4%
Gene Interaction Network
Click a node to explore
DSC2GJA1DSG1PKP1TMEM43PPLDSG3
PROTEIN STRUCTURE
Preparing viewer…
PDB5ERP Β· 2.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.74LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.59 [0.47–0.74]
RankingsWhere DSC2 stands among ~20K protein-coding genes
  • #3,557of 20,598
    Most Researched131 Β· top quartile
  • #774of 5,498
    Most Pathogenic Variants100 Β· top quartile
  • #5,850of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedDSC2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
PMID: 35288587
NPJ Genom Med Β· 2022
1.00
2
Modified mRNA Treatment Restores Cardiac Function in Desmocollin-2-Deficient Mouse Models of Arrhythmogenic Right Ventricular Cardiomyopathy.
PMID: 40211944
Circulation Β· 2025
0.90
3
Epstein-Barr virus exploits desmocollin 2 as the principal epithelial cell entry receptor.
PMID: 41006833
Nat Microbiol Β· 2025
0.80
4
Natural History and Clinical Outcomes of Patients With
PMID: 40123482
Circulation Β· 2025
0.70
5
Desmocollin 2 is a dominant entry receptor for Epstein-Barr virus infection of epithelial cells.
PMID: 40715781
Nat Microbiol Β· 2025
0.60