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
- Acts upstream of or within several processes, including embryonic morphogenesis; renal filtration; and retina layer formation. Predicted to be part of BBSome. Predicted to be active in membrane. Is expressed in brain; eye; photoreceptor outer segment layer; and somite. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 9; craniosynostosis; and primary ovarian insufficiency. 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 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Parathyroid hormone-responsive B1 | PTHB1, C-terminal helix bundle domain | PTHB1, GAE domain | PTHB1, hairpin domain | PTHB1, N-terminal domain | PTHB1, platform domain |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PJW4 | InterPro | 973 | ||||||
| UniProtKB:A0A8M9Q1U1 | InterPro | 490 | ||||||
| UniProtKB:A0A8M3AT49 | InterPro | 978 | ||||||
| UniProtKB:A0AB32T4P7 | InterPro | 973 | ||||||
| UniProtKB:A0AB32T540 | InterPro | 888 |
1 - 5 of 5
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available