Gene
crb2b
- ID
- ZDB-GENE-060610-1
- Name
- crumbs cell polarity complex component 2b
- Symbol
- crb2b Nomenclature History
- Previous Names
-
- crb2l (1)
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have calcium ion binding activity. Involved in several processes, including animal organ development; glomerular filtration; and heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules. Localizes to plasma membrane and protein-containing complex. Human ortholog(s) of this gene implicated in focal segmental glomerulosclerosis 9 and ventriculomegaly - cystic kidney disease. Is expressed in nervous system and pronephros. Orthologous to human CRB2 (crumbs cell polarity complex component 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 17 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| focal segmental glomerulosclerosis 9 | Alliance | Focal segmental glomerulosclerosis 9 | 616220 |
| ventriculomegaly - cystic kidney disease | Alliance | Ventriculomegaly with cystic kidney disease | 219730 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR013032 | EGF-like, conserved site |
| Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR001791 | Laminin G domain |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Family | IPR051022 | Notch Signaling and Cell Fate Determination |
| Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
| Homologous_superfamily | IPR013320 | Concanavalin A-like lectin/glucanase domain superfamily |
| PTM | IPR000152 | EGF-type aspartate/asparagine hydroxylation site |
Domain Details Per Protein
| Protein | Length | Concanavalin A-like lectin/glucanase domain superfamily | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like, conserved site | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | Growth factor receptor cysteine-rich domain superfamily | Laminin G domain | Notch Signaling and Cell Fate Determination |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q1A5L1
|
1458 | |||||||||
|
UniProtKB:A0A8M6Z842
|
1458 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available