Bbs7 Gene Summary [Mouse]
Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in fat cell differentiation. Acts upstream of or within several processes, including limb development; primary palate development; and smoothened signaling pathway. Located in several cellular components, including cytoskeleton; nucleus; and photoreceptor outer segment. Part of BBSome. Is expressed in several structures, including adrenal gland; central nervous system; eye; ovary; and respiratory system. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 7. Orthologous to human BBS7 (Bardet-Biedl syndrome 7). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Bbs7 |
| Official Name | Bardet-Biedl syndrome 7 (human) [Source:MGI Symbol;Acc:MGI:1918742] |
| Ensembl ID | ENSMUSG00000037325 |
| Bio databases IDs | |
| Aliases | Bardet-Biedl syndrome 7 (human) |
| Synonyms | 8430406N16Rik, Bardet-Biedl syndrome 7, BBS2L1 |
| 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 Bbs7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ciliary BBSome complex subunit 2, middle region
- transcription factor binding
- 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
- weight gain
- obesity
- Bardet-Biedl syndrome type 7
- Bardet-Biedl syndrome
- digenic Bardet-Biedl syndrome 1/7
- hereditary disorder
- retinal dystrophy
- Bardet-Biedl syndrome type 1
- optic atrophy
- ciliopathy
regulates
- DNA endogenous promoter
- RNA polymerase II
- DNA promoter
- RNF2
role in cell
- degeneration
- lack
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cilia
- cellular membrane
- Nucleus
- basal bodies
- centrosome
- axonemes
- cytosol
- photoreceptor outer segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Bbs7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- limb development
- intracellular transport
- protein transport
- protein localization
- smoothened signaling pathway
- digestive tract morphogenesis
- fat cell differentiation
- brain development
- visual perception
- determination of left/right symmetry
- regulation of transcription from RNA polymerase II promoter
- eye development
- heart looping
- positive regulation of proteasomal ubiquitin-dependent protein catabolic process
- pigment granule aggregation in cell center
- melanosome transport
Cellular Component
Where in the cell the gene product is active
- nucleus
- centrosome
- BBSome
- cilium basal body
- centriolar satellite
- membrane
- cytosol
- cilium membrane
- neuron projection
- axoneme
- photoreceptor outer segment
Molecular Function
What the gene product does at the molecular level
- protein binding