Gene
bbs5
- ID
- ZDB-GENE-040426-1083
- Name
- Bardet-Biedl syndrome 5
- Symbol
- bbs5 Nomenclature History
- Previous Names
-
- zgc:56578 (1)
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have phosphatidylinositol-3-phosphate binding activity. Involved in several processes, including Kupffer's vesicle development; animal organ morphogenesis; and establishment of pigment granule localization. Predicted to localize to BBSome and ciliary basal body. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 5. Is expressed in forebrain; margin; retina; and tail bud. Orthologous to human BBS5 (Bardet-Biedl syndrome 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:56578 (9 images)
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bardet-Biedl syndrome 5 | Alliance | Bardet-Biedl syndrome 5 | 615983 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
Domain Details Per Protein
| Protein | Length | PH-like domain superfamily |
|---|---|---|
|
UniProtKB:Q7ZWB7
|
342 |
Interactions and Pathways
No data available
Plasmids
No data available