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 enable calcium ion binding activity. Involved in retina morphogenesis in camera-type eye. Acts upstream of or within several processes, including glomerular filtration; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; and kidney development. Located in plasma membrane. Part of protein-containing complex. Is expressed in nervous system and pronephros. Human ortholog(s) of this gene implicated in focal segmental glomerulosclerosis 9 and ventriculomegaly - cystic kidney disease. 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 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | 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 | InterPro | 1458 | |||||||||
| UniProtKB:A0A8M6Z842 | InterPro | 1458 | |||||||||
| UniProtKB:A0AB32TWW2 | InterPro | 1458 |
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- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available