Gene
lrp2b
- ID
- ZDB-GENE-111115-1
- Name
- low density lipoprotein receptor-related protein 2b
- Symbol
- lrp2b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable hormone binding activity. Predicted to be involved in receptor-mediated endocytosis. Predicted to act upstream of or within endocytosis. Predicted to be located in membrane. Predicted to be part of receptor complex. Predicted to be active in apical plasma membrane. 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
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- 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 |
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 |
| Domain | IPR049883 | NOTCH1 EGF-like calcium-binding 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 | NOTCH1 EGF-like calcium-binding domain | Six-bladed beta-propeller, TolB-like |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9Q8X3
|
4577 |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance