Bbs4 Gene Summary [Mouse]
Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity; cytoskeletal protein binding activity; and protein-macromolecule adaptor 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 cilium assembly; nervous system development; and regulation of organelle organization. Located in several cellular components, including centriolar satellite; photoreceptor cell cilium; and photoreceptor inner segment. Part of BBSome. Is expressed in several structures, including brain; cardiovascular system; eye; genitourinary system; and gut. Used to study Bardet-Biedl syndrome 4 and obesity. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 4; morbid obesity; and obesity. Orthologous to human BBS4 (Bardet-Biedl syndrome 4). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Bbs4 |
| Official Name | Bardet-Biedl syndrome 4 (human) [Source:MGI Symbol;Acc:MGI:2143311] |
| Ensembl ID | ENSMUSG00000025235 |
| Bio databases IDs | |
| Aliases | Bardet-Biedl syndrome 4 (human) |
| Synonyms | Bardet-Biedl syndrome 4, D9Ertd464e |
| 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 Bbs4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- beta-tubulin binding
- TPR repeat
- cytoskeletal protein binding
- Tetratricopeptide repeats
- type IV pilus biogenesis/stability protein PilW
- protein binding activity, bridging
- alpha-tubulin binding
- transcription factor binding
- protein binding
- tetratricopeptide repeat
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
- Bardet-Biedl syndrome type 4
- obesity
- hyperphagia
- major depression
- retinal dystrophy
- non-insulin-dependent diabetes mellitus
- alcoholism
- retinitis pigmentosa
- Bardet-Biedl syndrome type 1
phenotypes
- decreased bone mineral content
- decreased fasting circulating glucose level
- decreased thigmotaxis
- preweaning lethality incomplete penetrance
- abnormal basal ganglion morphology
- abnormal blood homeostasis
- abnormal bone mineralization
- abnormal circulating hormone level
- abnormal circulating lipid level
- abnormal circulating mineral level
- abnormal cone electrophysiology
- abnormal enzyme/coenzyme level
- abnormal eye electrophysiology
- abnormal fasting circulating glucose level
- abnormal liver morphology
- abnormal liver physiology
- abnormal miniature excitatory postsynaptic currents
- abnormal neural tube morphology
- abnormal ocular fundus morphology
- abnormal olfaction
- abnormal olfactory epithelium cilium morphology
- abnormal olfactory sensory neuron morphology
- abnormal orientation of outer hair cell stereociliary bundles
- abnormal photoreceptor inner segment morphology
- abnormal photoreceptor outer segment morphology
- abnormal placing response
- abnormal posterior eye segment morphology
- abnormal renal tubule epithelial cell primary cilium morphology
- abnormal retina morphology
- abnormal retinal photoreceptor layer morphology
- abnormal retinal pigment epithelium morphology
- abnormal retinal vasculature morphology
- absent sperm flagellum
- decreased aggression
- decreased aggression towards mice
- decreased birth body size
- decreased body size
- decreased body weight
- decreased dendritic spine density
- decreased dendritic spine length
- decreased grip strength
- decreased salivation
- embryonic lethality during organogenesis incomplete penetrance
- enhanced autophagy
- enlarged lateral ventricles
- enlarged liver
- enlarged third ventricle
- hepatic steatosis
- hydrometrocolpos
- hyporesponsive to tactile stimuli
- impaired contextual conditioning behavior
- impaired cued conditioning behavior
- increased abdominal adipose tissue amount
- increased anxiety-related response
- increased blood urea nitrogen level
- increased circulating HDL cholesterol level
- increased circulating LDL cholesterol level
- increased circulating VLDL cholesterol level
- increased circulating bilirubin level
- increased circulating cholesterol level
- increased circulating glucose level
- increased circulating insulin level
- increased circulating leptin level
- increased circulating magnesium level
- increased circulating sodium level
- increased immunoglobulin level
- increased lactate dehydrogenase level
- increased susceptibility to age related obesity
- increased thigmotaxis
- increased total body fat amount
- kidney cysts
- male infertility
- obese
- optic nerve atrophy
- perinatal lethality incomplete penetrance
- polyphagia
- renal glomerulus cysts
- retinal degeneration
- small hippocampus
- thin cerebral cortex
role in cell
- expression in
- quantity
- apoptosis
- migration
- assembly
- shortening
- development
- lack
- homeostasis
- maintenance
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
- pericentriolar satellite
- daughter centriole
- motile cilia
- ciliary transition zone
- centriolar satellite
- non-motile cilium
- cilia
- perinuclear region
- pericentriolar regions
- cellular membrane
- basal bodies
- centrosome
- centriole
- cytosol
- connecting cilia
- photoreceptor outer segments
- photoreceptor inner segments
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Bbs4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- centrosome cycle
- protein transport
- regulation of stress fiber assembly
- brain morphogenesis
- striatum development
- fat cell differentiation
- positive regulation of flagellum assembly
- face development
- positive regulation of multicellular organism growth
- neuron migration
- sensory processing
- neural tube closure
- cytokinesis after mitosis
- photoreceptor cell maintenance
- sensory perception of smell
- regulation of cytokinesis
- protein localization to centrosome
- negative regulation of appetite by leptin-mediated signaling pathway
- dendrite development
- social behavior
- cilium morphogenesis
- spermatid development
- regulation of cilium beat frequency involved in ciliary motility
- negative regulation of systemic arterial blood pressure
- fat pad development
- hippocampus development
- microtubule cytoskeleton organization
- cerebral cortex development
- visual perception
- retinal rod cell development
- ventricular system development
- negative regulation of gene expression
- retina homeostasis
- negative regulation of actin filament polymerization
- gene expression
- photoreceptor cell outer segment organization
- microtubule anchoring at centrosome
- protein localization to organelle
- regulation of lipid metabolic process
- maintenance of protein location in nucleus
- adult behavior
Cellular Component
Where in the cell the gene product is active
- photoreceptor connecting cilium
- BBSome
- cilium basal body
- centriolar satellite
- photoreceptor outer segment
- pericentriolar material
- nucleus
- centrosome
- motile cilium
- centriole
- cilium
- cytosol
- cilium membrane
- ciliary transition zone
- photoreceptor inner segment
Molecular Function
What the gene product does at the molecular level
- protein binding
- dynactin binding
- beta-tubulin binding
- alpha-tubulin binding
- protein binding, bridging