The GNE gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol GNE
Gene name glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Chromosome 9
Chromosomal band p13.1
Imprinted Not imprinted
Genomic reference NG_008246.1
Transcript reference NM_001128227.2
Exon/intron information NM_001128227.2 exon/intron table
Associated with diseases IBM2, NM, sialuria
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Fleur Garton, Tara Voogel, and Johan den Dunnen
Total number of public variants reported 764
Unique public DNA variants reported 204
Individuals with public variants 613
Hidden variants 6
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 July 07, 2022
Version GNE:220707

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_001128227.2.
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
External URL GNE page on the LMDp
HGNC 23657
Entrez Gene 10020
PubMed articles GNE
OMIM - Gene 603824
OMIM - Diseases NM (IBM2)
sialuria (sialuria, French type)
GeneCards GNE
GeneTests GNE
Orphanet GNE

Active transcripts




NCBI ID     

NCBI Protein ID     

00024082 9 transcript variant 1 NM_001128227.2 NP_001121699.1 764

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2010-2022. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.