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 have Wnt-activated receptor activity and Wnt-protein binding activity. Involved in animal organ development; canonical Wnt signaling pathway; and sensory perception of sound. Predicted to localize to plasma membrane and receptor complex. 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
-
- All Expression Data
- 9 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 21 figures from 7 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| 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 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| nonsyndromic deafness | WT + MO5-lrp5 + MO6-lrp5 | standard conditions | Xia et al., 2017 |
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 |
- Genome Browsers
Interactions and Pathways
Plasmids
No data available