BBS4 Gene - Bardet-Biedl Syndrome 4
BBS4: Centriolar protein involved in ciliogenesis and BBSome complex assembly
Gene Information Card
| Symbol | BBS4 |
|---|---|
| Full Name | Bardet-Biedl syndrome 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q24.1 |
| NCBI Gene ID | 585 ncbi.nlm.nih.gov/gene/585 |
| Ensembl ID | ENSG00000140463 |
| UniProt ID | Q96RK4 |
| OMIM ID | 600374 |
| HGNC ID | 969 |
| Aliases | BBS4L, FLJ20512, MGC142026, MGC142028 |
Description
BBS4 encodes a protein that localizes to centriolar satellites and is a core component of the BBSome complex, which mediates ciliary membrane trafficking and ciliogenesis. The protein is involved in the transport of cargo to the primary cilium and is essential for proper ciliary function. Mutations in BBS4 cause Bardet-Biedl syndrome type 4, a pleiotropic ciliopathy characterized by obesity, retinitis pigmentosa, polydactyly, renal anomalies, and hypogonadism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bardet-Biedl syndrome 4 (BBS4) | Loss-of-function mutations impair BBSome assembly and ciliary trafficking, leading to defective cilia in multiple tissues. | ClinVar, OMIM |
| Obesity (associated with BBS4) | Disrupted ciliary signaling in hypothalamic neurons alters energy homeostasis. | OMIM, NCBI |
| Retinitis pigmentosa (BBS4-related) | Impaired ciliary transport in photoreceptor cells causes progressive retinal degeneration. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain (cerebellum) | 8.7 | Low |
| Kidney | 7.1 | Low |
| Adipose tissue | 5.4 | Low |
| Retina | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.2 | Embryonic kidney cells |
| HeLa | 6.8 | Cervical cancer cells |
| SH-SY5Y | 5.1 | Neuroblastoma cells |
| ARPE-19 | 4.3 | Retinal pigment epithelial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.332G>A (p.Arg111Gln) | Missense | Rare | Loss of function; disrupts BBSome interaction |
| c.1169T>C (p.Leu390Pro) | Missense | Rare | Loss of function; impairs ciliary localization |
| c.1306C>T (p.Arg436*) | Nonsense | Rare | Loss of function; premature truncation |
| c.1495_1496del (p.Glu499fs) | Frameshift | Rare | Loss of function; protein truncation |
Mutation functional classification
Loss of Function (LOF)
Most BBS4 mutations are loss-of-function, leading to haploinsufficiency or complete loss of BBSome function, disrupting ciliary trafficking.
Gain of Function (GOF)
No gain-of-function mutations reported for BBS4.
Dominant Negative (DN)
No dominant-negative mutations reported; BBS4 is typically recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• BBSome-mediated ciliary trafficking (Reactome: R-HSA-5620912)
• Ciliopathy pathway (KEGG: hsa05016)
Protein Summary
The BBS4 protein is a 519-amino-acid component of the BBSome, a complex that coats vesicles for ciliary membrane transport. It localizes to centriolar satellites and the basal body, facilitating the movement of signaling receptors and other cargo into the primary cilium. Loss of BBS4 function disrupts ciliary signaling, leading to the multisystemic features of Bardet-Biedl syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BBS4 Knockout HEK293 Cell Line | EDJ-KQ4124 | Human | 585 | Details Get a Quote |
| BBS4 Knockout HeLa Cell Line | EDJ-KQ25195 | Human | 585 | Details Get a Quote |
| BBS4 Knockout A-549 Cell Line | EDJ-KQ26527 | Human | 585 | Details Get a Quote |
| BBS4 Knockout HCT 116 Cell Line | EDJ-KQ26528 | Human | 585 | Details Get a Quote |
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