BBS2 Gene Summary [Human]
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]
Details
| Type | Retained Intron |
| Official Symbol | BBS2 |
| Official Name | Bardet-Biedl syndrome 2 [Source:HGNC Symbol;Acc:HGNC:967] |
| Ensembl ID | ENSG00000125124 |
| Bio databases IDs | |
| Aliases | Bardet-Biedl syndrome 2 |
| Synonyms | 2410125H22Rik, Bardet-Biedl syndrome 2, BBS, RP74 |
| Species | Human, Homo sapiens |
| 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 human 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 human 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