View gene GNE

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
General information
Gene symbol GNE
Gene name glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Chromosome 9
Chromosomal band p13.1
Imprinted Unknown
Genomic reference NG_008246.1
Transcript reference NM_001128227.2
Associated with diseases IBM-2, NM, sialuria
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Fleur Garton and Johan den Dunnen
Total number of public variants reported 398
Unique public DNA variants reported 97
Individuals with public variants 385
Hidden variants 0
Notes This database is one of the gene variant databases from the:
We gratefully acknowledge the Hogeschool Leiden, in particular students Kars van der Weijden and Kevin van der Graaf, for valuable help establishing this database.
Date created March 01, 2010
Date last updated December 09, 2015
Version GNE:151209

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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/GNE
External URL GNE page on the LMDp
HGNC 23657
Entrez Gene 10020
PubMed articles GNE
OMIM - Gene 603824
OMIM - Diseases IBM-2 (myopathy, inclusion body, type 2 (IBM-2))
NM (myopathy, Nonaka (NM))
sialuria (sialuria, French type)
HGMD GNE
GeneCards GNE
GeneTests GNE


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024082 9 transcript variant 1 NM_001128227.2 NP_001121699.1 398


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 © 2010-2016. 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.