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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
Acts upstream of or within animal organ development; canonical Wnt signaling pathway; and sensory perception of sound. Predicted to be located in membrane. Predicted to be 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
Comparative Information
Expression
All Expression Data
7 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
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
Polycystic liver disease 4 with or without kidney cysts 617875
van Buchem disease, type 2 607636
[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:D0EWS1 1430
UniProtKB:F1QTJ4 1615
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
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations