SYNE2 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp). Please note that for this gene nearly all data are still in the LMDp database.
General information
Gene symbol SYNE2
Gene name spectrin repeat containing, nuclear envelope 2
Chromosome 14
Chromosomal band q22.1-q22.3
Imprinted Unknown
Genomic reference NG_011756.1
Transcript reference NM_182914.2
Exon/intron information NM_182914.2 exon/intron table
Associated with diseases EDMD-5
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 252
Unique public DNA variants reported 194
Individuals with public variants 90
Hidden variants 0
Notes This database is one of the gene variant databases from the:
Date created September 09, 2009
Date last updated March 19, 2019
Version SYNE2:190319

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_182914.2.
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 http://www.LOVD.nl/SYNE2
HGNC 17084
Entrez Gene 23224
PubMed articles SYNE2
OMIM - Gene 608442
OMIM - Diseases EDMD-5 (dystrophy, muscular, Emery-Dreifuss, type 5, autosomal dominant (EDMD-5))
HGMD SYNE2
GeneCards SYNE2
GeneTests SYNE2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001238 14 transcript variant 5 NM_182914.2 NP_878918.2 252


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.