The LRP5 gene homepage

Osteogenesis Imperfecta Variant Database
General information
Gene symbol LRP5
Gene name low density lipoprotein receptor-related protein 5
Chromosome 11
Chromosomal band q13.4
Imprinted Unknown
Genomic reference NG_015835.2
Transcript reference NM_002335.4
Exon/intron information NM_002335.4 exon/intron table
Associated with diseases BMND1, EVR4, EVR, OPPG, OPTA, OPTA1, PCLD4, VBCH2, hyperostosis, endosteal (Worth disease), osteoporosis
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Carmel Toomes and Raymond Dalgleish
Total number of public variants reported 556
Unique public DNA variants reported 334
Individuals with public variants 484
Hidden variants 8
Download all this gene's data Download all data
Notes This database is one of the ”Eye disease” gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
This database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)
Date created November 01, 2009
Date last updated November 27, 2023
Version LRP5:231127

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_002335.4.
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
HGNC 6697
Entrez Gene 4041
PubMed articles LRP5
OMIM - Gene 603506
OMIM - Diseases BMND1 (bone mineral density quantitative trait locus 1 (BMND-1))
EVR4 (vitreoretinopathy, exudative, type 4 (EVR4))
OPPG (osteoporosis-pseudoglioma syndrome (OPPG))
OPTA1 (osteopetrosis, autosomal dominant, type 1 (OPTA-1))
PCLD4 (liver disease, polycystic, type 4, with/without kidney cysts (PCLD4))
VBCH2 (Van Buchem disease type 2)
hyperostosis, endosteal (Worth disease)
GeneCards LRP5
GeneTests LRP5
Orphanet LRP5

Active transcripts




NCBI ID     

NCBI Protein ID     

00025617 11 LDL receptor related protein 5, transcript variant 1 NM_002335.4 NP_002326.2 556

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 © 2009-2023. 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.