Gene
bbs9
- ID
- ZDB-GENE-081027-4
- Name
- Bardet-Biedl syndrome 9
- Symbol
- bbs9 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Involved in several processes, including embryonic morphogenesis; renal filtration; and retina layer formation. Predicted to localize to BBSome and membrane. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 9; craniosynostosis; and premature ovarian failure. Is expressed in brain; eye; and somite. Orthologous to human BBS9 (Bardet-Biedl syndrome 9).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 10 figures from 7 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bardet-Biedl syndrome 9 | Alliance | Bardet-Biedl syndrome 9 | 615986 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Parathyroid hormone-responsive B1 | PTHB1, C-terminal domain | PTHB1, N-terminal domain |
|---|---|---|---|---|
|
UniProtKB:A0A8M9PJW4
|
973 | |||
|
UniProtKB:A0A8M9Q1U1
|
490 | |||
|
UniProtKB:A0A8M3AT49
|
978 |
Interactions and Pathways
No data available
Plasmids
No data available