Gene
bbs7
- ID
- ZDB-GENE-030219-90
- Name
- Bardet-Biedl syndrome 7
- Symbol
- bbs7 Nomenclature History
- Previous Names
-
- id:ibd5048
- zgc:153772
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Involved in several processes, including Kupffer's vesicle development; embryonic morphogenesis; and establishment of pigment granule localization. Predicted to localize to several cellular components, including BBSome; cytoskeleton; and neuron projection. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 7. Is expressed in brain; eye; fin; and otic placode. Orthologous to human BBS7 (Bardet-Biedl syndrome 7).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bardet-Biedl syndrome 7 | Alliance | Bardet-Biedl syndrome 7 | 615984 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Bardet-Biedl syndrome 7 protein | WD40-repeat-containing domain superfamily |
|---|---|---|---|
|
UniProtKB:Q08C18
|
715 |
Interactions and Pathways
No data available
Plasmids
No data available