The 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 NC_000023.10
Transcript reference NM_001122606.1, NM_002294.2
Exon/intron information NM_001122606.1 exon/intron table, NM_002294.2 exon/intron table
Associated with diseases Danon, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 305
Unique public DNA variants reported 182
Individuals with public variants 306
Hidden variants 26
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 May 05, 2025
Version LAMP2:250505

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_001122606.1, NM_002294.2.
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/LAMP2
HGNC HGNC:6501
Entrez Gene 3920
PubMed articles LAMP2
OMIM - Gene 309060
OMIM - Diseases Danon (GSD2B)
HGMD LAMP2
GeneCards LAMP2
NIH Genetic Testing Registry LAMP2
Orphanet LAMP2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000468 X transcript variant C NM_001122606.1 NP_001116078.1 301
00025774 X transcript variant A NM_002294.2 NP_002285.1 272


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 © 2009-2025. 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.


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.