SGCE gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol SGCE
Gene name sarcoglycan, epsilon
Chromosome 7
Chromosomal band q21.3
Imprinted Unknown
Genomic reference NG_008893.2
Transcript reference NM_003919.2
Exon/intron information NM_003919.2 exon/intron table
Associated with diseases DYT-11
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 136
Unique public DNA variants reported 82
Individuals with public variants 356
Hidden variants 0
Notes This database is one of the gene variant databases from the:
Date created August 10, 2000
Date last updated April 03, 2019
Version SGCE:190403

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_003919.2.
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 https://www.LOVD.nl/SGCE
External URL SGCE homepage Leiden Muscular Dystrophy pages
HGNC 10808
Entrez Gene 8910
PubMed articles SGCE
OMIM - Gene 604149
OMIM - Diseases DYT-11 (dystonia, myoclonic, type 11 (DYT-11))
HGMD SGCE
GeneCards SGCE
GeneTests SGCE


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025242 7 transcript variant 2 NM_003919.2 NP_003910.1 136


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 © 2000-2019. 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.