Gene
lrp2a
- ID
- ZDB-GENE-050119-2
- Name
- low density lipoprotein receptor-related protein 2a
- Symbol
- lrp2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to enable hormone binding activity. Acts upstream of or within heart development; receptor-mediated endocytosis; and renal absorption. 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 gut epithelium; nervous system; otic vesicle; pronephros; and radial glial cell. Used to study myopia. Human ortholog(s) of this gene implicated in Donnai-Barrow syndrome and autoimmune thyroiditis. Orthologous to human LRP2 (LDL receptor related protein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 23 figures from 11 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 28 figures from 10 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Donnai-Barrow syndrome | Alliance | Donnai-Barrow syndrome | 222448 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| myopia | lrp2amw90/mw90 | standard conditions | Collery et al., 2019 |
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 | IPR026823 | Complement Clr-like EGF domain |
| 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 | Complement Clr-like EGF domain | 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 | Six-bladed beta-propeller, TolB-like |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:E0AE56
|
4673 |
Interactions and Pathways
Plasmids
No data available