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DSG2 desmoglein 2

Gene ID: 1829, updated on 29-Mar-2023
Gene type: protein coding
Also known as: HDGC; CDHF5


This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jan 2016]

Copy number response

Copy number response

Some evidence for dosage pathogenicity (Last evaluated 2022-12-13)

ClinGen Genome Curation PagePubMed

No evidence available (Last evaluated 2022-12-13)

ClinGen Genome Curation Page

Genomic context

Chromosome: 18; NC_000018.10 (31498177..31549008)
Total number of exons:


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