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 ARVD-10, CMD-1BB
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Paul van der Zwaag
Total number of public variants reported 571
Unique public DNA variants reported 290
Individuals with public variants 227
Hidden variants 3
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 February 10, 2019
Version DSG2:190210

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 https://www.LOVD.nl/DSG2
External URL Orphanet
ARVD/C genetic variants database
HGNC 3049
Entrez Gene 1829
PubMed articles DSG2
OMIM - Gene 125671
OMIM - Diseases ARVD-10 (dysplasia, ventricular, right, arrhythmogenic, type 10 (ARVD-10))
CMD-1BB (cardiomyopathy, dilated, type 1BB (CMD-1BB))
HGMD DSG2
GeneCards DSG2
GeneTests DSG2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006717 18 desmoglein 2 NM_001943.3 NP_001934.2 571


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2009-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.