Gene
lrp4
- ID
- ZDB-GENE-130129-1
- Name
- low density lipoprotein receptor-related protein 4
- Symbol
- lrp4 Nomenclature History
- Previous Names
-
- eni
- nui
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable hormone binding activity. Acts upstream of or within axon regeneration; establishment of synaptic specificity at neuromuscular junction; and neuromuscular synaptic transmission. Predicted to be located in membrane. Predicted to be part of receptor complex. Predicted to be active in apical plasma membrane. Is expressed in several structures, including actinotrichium; adaxial cell; caudal vein plexus; median fin fold; and nervous system. Used to study bone development disease. Human ortholog(s) of this gene implicated in Cenani-Lenz syndactyly syndrome; congenital myasthenic syndrome 17; and sclerosteosis 2. Orthologous to human LRP4 (LDL receptor related protein 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Cenani-Lenz syndactyly syndrome | Alliance | Cenani-Lenz syndactyly syndrome | 212780 |
| congenital myasthenic syndrome 17 | Alliance | ?Myasthenic syndrome, congenital, 17 | 616304 |
| sclerosteosis 2 | Alliance | Sclerosteosis 2 | 614305 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| bone development disease | AB + MO1-lrp4 | control | Tian et al., 2018 |
1 - 1 of 1
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
| Conserved_site | IPR023415 | Low-density lipoprotein (LDL) receptor class A, conserved site |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Domain | IPR049883 | NOTCH1 EGF-like calcium-binding domain |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Cueball/EGF/LRP/Nidogen | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | Growth factor receptor cysteine-rich domain superfamily | 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 | Low-density lipoprotein receptor-related | NOTCH1 EGF-like calcium-binding domain | Six-bladed beta-propeller, TolB-like |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A2R8PYI8 | InterPro | 968 | |||||||||||||
| UniProtKB:A0A8M6Z1W5 | InterPro | 1913 |
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- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available