Bbs9 Gene Summary [Mouse]
Involved in cilium assembly and fat cell differentiation. Located in membrane. Part of BBSome. Is expressed in midgut; nervous system; sensory organ; and spleen. 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). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Bbs9 |
| Official Name | Bardet-Biedl syndrome 9 (human) [Source:MGI Symbol;Acc:MGI:2442833] |
| Ensembl ID | ENSMUSG00000035919 |
| Bio databases IDs | |
| Aliases | Bardet-Biedl syndrome 9 (human) |
| Synonyms | AF263286, B1, Bardet-Biedl syndrome 9, C18, circBBS9, circRNA-BBS9, D1, E130103I17Rik, Image:5368562, PARATHYROID HORMONE-RESPONSIVE B1, PTHB1, RGD1308472 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Bbs9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PTHB1 N-terminus
- PTHB1 C-terminus
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dementia
- Bardet-Biedl syndrome
- Bardet-Biedl syndrome type 9
- retinal dystrophy
- open-angle glaucoma
- retinitis pigmentosa
- acute kidney injury
- idiopathic scoliosis
- isolated sagittal craniosynostosis
- Bardet-Biedl syndrome type 1
regulates
- adhesion molecule
role in cell
- assembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- ciliary transition zone
- Cytoplasm
- cilia
- cellular membrane
- basal bodies
- centrosome
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Bbs9 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- protein transport
- fat cell differentiation
- visual perception
Cellular Component
Where in the cell the gene product is active
- pericentriolar material
- BBSome
- centriolar satellite
- membrane
- cilium
- cytosol
- cilium membrane
- ciliary transition zone
Molecular Function
What the gene product does at the molecular level
- protein binding