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
Predicted to enable Wnt receptor activity and Wnt-protein binding activity. Acts upstream of or within several processes, including embryonic organ morphogenesis; neural crest cell migration; and neuromast hair cell development. Predicted to be located in 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 several human genes including LRP5 (LDL receptor related protein 5).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
11 figures from 8 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
21 figures from 7 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-pseudoglioma syndrome Alliance Osteoporosis-pseudoglioma syndrome 259770
polycystic liver disease 4 Alliance Polycystic liver disease 4 with or without kidney cysts 617875
Worth syndrome Alliance Endosteal hyperostosis 144750
[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
Family IPR050778 Cueball/EGF/LRP/Nidogen
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 Cueball/EGF/LRP/Nidogen 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:A0A8M3AZI2 1613
UniProtKB:F1QTJ4 1615
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA lrp5-201 (1) Ensembl 9,019 nt
mRNA lrp5-202 (1) Ensembl 4,390 nt
mRNA lrp5-203 (1) Ensembl 6,388 nt
Interactions and Pathways
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations