Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands
LOVD DSG2 homepage

General information
Gene name Desmoglein 2
Gene symbol DSG2
Chromosome Location 18q12
Database location
Curator Paul van der Zwaag
Database reference for citations van der Zwaag et al.
PubMed references View all (unique) PubMed references in the DSG2 database
Date of creation January 22, 2009
Last update April 12, 2018
Version DSG2 180412
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GenBank reference NG_007072.2
Transcript refseq ID NM_001943.3
Total number of unique DNA variants reported 168
Total number of individuals with variant(s) 207
Total number of variants reported 211
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the DSG2 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the DSG2 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the DSG2 database
Variants with no known pathogenicity Listing of all DSG2 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the DSG2 database in tab-delimited text format.

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
HGNC 3049
Entrez Gene 1829
OMIM - Gene 125671
OMIM - Disease ARVD/C
GeneTests DSG2
External link Orphanet

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 © 2018. 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.