Bbs2 Gene Summary [Mouse]
Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in several processes, including fat cell differentiation; negative regulation of appetite by leptin-mediated signaling pathway; and regulation of cilium beat frequency involved in ciliary motility. Acts upstream of or within several processes, including blood vessel diameter maintenance; brain development; and cilium assembly. Located in several cellular components, including microvillus; motile cilium; and stereocilium. Part of BBSome. Is expressed in central nervous system; early embryo; and retina. Used to study Bardet-Biedl syndrome 2. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 2; obesity; and retinitis pigmentosa 74. Orthologous to human BBS2 (Bardet-Biedl syndrome 2). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Bbs2 |
| Official Name | Bardet-Biedl syndrome 2 (human) [Source:MGI Symbol;Acc:MGI:2135267] |
| Ensembl ID | ENSMUSG00000031755 |
| Bio databases IDs | |
| Aliases | Bardet-Biedl syndrome 2 (human) |
| Synonyms | 2410125H22Rik, Bardet-Biedl syndrome 2, BBS, RP74 |
| 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 Bbs2 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
- Ciliary BBSome complex subunit 2, C-terminal
- transcription factor binding
- protein binding
- Ciliary BBSome complex subunit 2, N-terminal
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Bardet-Biedl syndrome type 2
- hereditary disorder
- Bardet-Biedl syndrome
- retinitis pigmentosa
- obesity
- retinal dystrophy
- digenic Bardet-Biedl syndrome 1/2
- metabolic syndrome X
- digenic Bardet-Biedl syndrome 2/6
- breast carcinoma
role in cell
- apoptosis
- activation in
- binding in
- number
- abnormal morphology
- size
- assembly
- maintenance
- lack
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
- motile cilia
- cilia
- cellular membrane
- basal bodies
- cytosol
- stereocilia
- neurites
- microvilli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Bbs2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of multicellular organism growth
- cilium morphogenesis
- regulation of cilium beat frequency involved in ciliary motility
- protein localization
- Golgi to plasma membrane protein transport
- hippocampus development
- brain morphogenesis
- cerebral cortex development
- vasodilation
- striatum development
- sperm axoneme assembly
- fat cell differentiation
- visual perception
- positive regulation of multicellular organism growth
- negative regulation of gene expression
- photoreceptor cell maintenance
- gene expression
- artery smooth muscle contraction
- protein localization to organelle
- adult behavior
- melanosome transport
- cartilage development
- negative regulation of appetite by leptin-mediated signaling pathway
Cellular Component
Where in the cell the gene product is active
- motile cilium
- BBSome
- microvillus
- cilium basal body
- centriolar satellite
- membrane
- cytosol
- cilium membrane
- stereocilium
- neuron projection
Molecular Function
What the gene product does at the molecular level
- protein binding