Gene

lrp5

ID
ZDB-GENE-050518-2
Name
low density lipoprotein receptor-related protein 5
Symbol
lrp5 Nomenclature History
Previous Names
  • LRP6
Type
protein_coding_gene
Location
Chr: 25 Mapping Details/Browsers
Description
Involved in animal organ development; canonical Wnt signaling pathway; and sensory perception of sound. Predicted to localize to integral component of membrane. Is expressed in several structures, including brain; head; pectoral fin bud; posterior lateral line primordium; and tail bud. Used to study nonsyndromic deafness. Human ortholog(s) of this gene implicated in autosomal dominant polycystic kidney disease; bone remodeling disease (multiple); eye disease (multiple); osteoporosis-pseudoglioma syndrome; and polycystic liver disease. Orthologous to human LRP5 (LDL receptor related protein 5).
Genome Resources
Note
None
Expression
All Expression Data
7 figures from 5 publications
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
11 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With lrp5 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal dominant osteopetrosis 1 Alliance Osteopetrosis, autosomal dominant 1 607634
exudative vitreoretinopathy 4 Alliance Exudative vitreoretinopathy 4 601813
osteoporosis Alliance {Osteoporosis} 166710
osteoporosis-pseudoglioma syndrome Alliance Osteoporosis-pseudoglioma syndrome 259770
Worth syndrome Alliance Hyperostosis, endosteal 144750
Worth syndrome Alliance Osteosclerosis 144750
Worth syndrome Alliance van Buchem disease, type 2 607636
Polycystic liver disease 4 with or without kidney cysts 617875
[Bone mineral density variability 1] 601884
Associated With lrp5 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR023415 Low-density lipoprotein (LDL) receptor class A, conserved site
Domain IPR000742 EGF-like domain
Homologous_superfamily IPR011042 Six-bladed beta-propeller, TolB-like
Homologous_superfamily IPR036055 LDL receptor-like superfamily
Repeat IPR000033 LDLR class B repeat
Repeat IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
Domain Details Per Protein
Protein Length EGF-like domain LDLR class B repeat LDL receptor-like superfamily Low-density lipoprotein (LDL) receptor class A, conserved site Low-density lipoprotein (LDL) receptor class A repeat Six-bladed beta-propeller, TolB-like
UniProtKB:F1QTJ4 1615
UniProtKB:D0EWS1 1430
UniProtKB:A0A2R8Q9H5 1430
Transcripts
Genome Browsers
No data available
Interactions and Pathways
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations