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DSC2 desmocollin 2

Gene ID: 1824, updated on 29-Mar-2023
Gene type: protein coding
Also known as: DG2; DSC3; CDHF2; ARVD11; DGII/III


This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

Associated conditions

See all available tests in GTR for this gene

A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
GeneReviews: Not available
Arrhythmogenic right ventricular cardiomyopathySee labs
Arrhythmogenic right ventricular dysplasia 11See labs

Copy number response

Copy number response

No evidence available (Last evaluated 2016-01-14)

ClinGen Genome Curation Page

Some evidence for dosage pathogenicity (Last evaluated 2016-01-14)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 18; NC_000018.10 (31058840..31102421, complement)
Total number of exons:


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