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 have calcium ion binding activity. Involved in axon regeneration; establishment of synaptic specificity at neuromuscular junction; and neuromuscular synaptic transmission. Predicted to localize to integral component of membrane. 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. Is expressed in several structures, including actinotrichium; adaxial cell; caudal vein plexus; median fin fold; and nervous system. 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 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| bone development disease | AB + MO1-lrp4 | control | Tian et al., 2018 |
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 |
| Family | IPR050778 | Cueball/EGF/LRP/Nidogen |
| Family | IPR051221 | Low-density lipoprotein receptor-related |
| Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
| Homologous_superfamily | IPR011042 | Six-bladed beta-propeller, TolB-like |
| Homologous_superfamily | IPR036055 | LDL receptor-like superfamily |
| PTM | IPR000152 | EGF-type aspartate/asparagine hydroxylation site |
| 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 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
|
968 | |||||||||||||
|
UniProtKB:A0A8M6Z1W5
|
1913 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available