LAMP2 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
General information
Gene symbol LAMP2
Gene name lysosomal-associated membrane protein 2
Chromosome X
Chromosomal band q24-q25
Imprinted Unknown
Genomic reference NG_007995.1
Transcript reference NM_001122606.1, NM_013995.2
Associated with diseases Danon, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 178
Unique public DNA variants reported 120
Individuals with public variants 259
Hidden variants 0
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Date created March 06, 2009
Date last updated January 09, 2019
Version LAMP2:190109

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/LAMP2
HGNC 6501
OMIM - Gene 309060
OMIM - Diseases Danon (GSD-2B)
HGMD LAMP2
GeneCards LAMP2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000468 X transcript variant C NM_001122606.1 NP_001116078.1 177
00024201 X transcript variant B NM_013995.2 NP_054701.1 162


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.