Gene
bbs4
- ID
- ZDB-GENE-060126-2
- Name
- Bardet-Biedl syndrome 4
- Symbol
- bbs4 Nomenclature History
- Previous Names
-
- zgc:152964
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Involved in several processes, including Kupffer's vesicle development; embryonic morphogenesis; and establishment of pigment granule localization. Used to study Bardet-Biedl syndrome and ciliopathy. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 4; morbid obesity; and obesity. Is expressed in eye photoreceptor cell. Orthologous to human BBS4 (Bardet-Biedl syndrome 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 24 figures from 13 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bardet-Biedl syndrome 4 | Alliance | Bardet-Biedl syndrome 4 | 615982 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Bardet-Biedl syndrome | AB/EKW + MO1-bbs4 | standard conditions | Wang et al., 2011 |
| ciliopathy | AB/EKW + MO1-bbs4 | standard conditions | Wang et al., 2011 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Tetratricopeptide-like helical domain superfamily | Tetratricopeptide repeat |
|---|---|---|---|
|
UniProtKB:E7EXH4
|
528 |
Interactions and Pathways
No data available
Plasmids
No data available