The DSG2 gene homepage

General information
Gene symbol DSG2
Gene name desmoglein 2
Chromosome 18
Chromosomal band q12.1
Imprinted Unknown
Genomic reference LRG_397
Transcript reference NM_001943.3
Exon/intron information NM_001943.3 exon/intron table
Associated with diseases ARVD10, CMD1BB
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Paul van der Zwaag
Total number of public variants reported 750
Unique public DNA variants reported 386
Individuals with public variants 321
Hidden variants 12
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created January 22, 2009
Date last updated July 07, 2023
Version DSG2:230707

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001943.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL ARVD/C genetic variants database
HGNC 3049
Entrez Gene 1829
PubMed articles DSG2
OMIM - Gene 125671
OMIM - Diseases ARVD10 (dysplasia, ventricular, right, arrhythmogenic, type 10 (ARVD-10))
CMD1BB (cardiomyopathy, dilated, type 1BB (CMD-1BB))
GeneCards DSG2
GeneTests DSG2
Orphanet DSG2

Active transcripts




NCBI ID     

NCBI Protein ID     

00006717 18 desmoglein 2 NM_001943.3 NP_001934.2 750

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