DSG2 desmoglein 2

Gene ID: 1829, updated on 4-Jan-2025
Gene type: protein coding
Also known as: HDGC; CDHF5

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Arrhythmogenic right ventricular cardiomyopathy MedGen: C0349788GeneReviews: Arrhythmogenic Right Ventricular Cardiomyopathy Overview	See labs
Arrhythmogenic right ventricular dysplasia 10 MedGen: C1857777OMIM: 610193GeneReviews: Arrhythmogenic Right Ventricular Cardiomyopathy Overview	See labs
Dilated cardiomyopathy 1BB MedGen: C2752072OMIM: 612877GeneReviews: Dilated Cardiomyopathy Overview	See labs
Primary dilated cardiomyopathy MedGen: C0007193GeneReviews: Dilated Cardiomyopathy Overview	See labs

Copy number response

Description
Copy number response Haploinsufficency Some evidence for dosage pathogenicity (Last evaluated 2022-12-13) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2022-12-13) ClinGen Genome Curation Page

Genomic context

Location:: 18q12.1

Sequence:: Chromosome: 18; NC_000018.10 (31498177..31549008)

Total number of exons:: 16

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for DSG2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ARVD/C Genetic Variants Database - DSG2
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
DSG2 @ LOVD
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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