BBS5 Gene - Bardet-Biedl Syndrome 5
Essential component of the BBSome complex involved in ciliary transport
Gene Information Card
| Symbol | BBS5 |
|---|---|
| Full Name | Bardet-Biedl syndrome 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 129880 ncbi.nlm.nih.gov/gene/129880 |
| Ensembl ID | ENSG00000163072 |
| UniProt ID | Q8N3I7 |
| OMIM ID | 603650 |
| HGNC ID | 970 |
| Aliases | BBS5, FLJ12604 |
Description
The BBS5 gene encodes a protein that is a core component of the BBSome complex, which is essential for ciliary membrane trafficking and signaling. Mutations in BBS5 cause Bardet-Biedl syndrome, a pleiotropic ciliopathy characterized by obesity, retinal dystrophy, polydactyly, renal anomalies, and cognitive impairment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bardet-Biedl syndrome 5 (BBS5) | Loss-of-function mutations disrupt BBSome assembly, impairing ciliary transport and signaling | OMIM #615983; multiple reports in ClinVar and literature |
| Retinitis pigmentosa (non-syndromic) | Rare BBS5 variants may contribute to isolated retinal degeneration | Case reports in ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Kidney | 8.5 | Medium |
| Brain (cerebellum) | 6.2 | Low |
| Liver | 4.1 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.4 | Cervical carcinoma cells |
| HepG2 | 5.6 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.592C>T (p.Arg198*) | Nonsense | <0.01% | Premature stop, loss of function |
| c.235G>A (p.Gly79Arg) | Missense | <0.01% | Impaired BBSome assembly |
| c.1A>G (p.Met1?) | Start loss | <0.01% | No protein production |
Mutation functional classification
Loss of Function (LOF)
Most BBS5 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to truncated or absent protein, disrupting BBSome function.
Gain of Function (GOF)
No gain-of-function mutations reported for BBS5.
Dominant Negative (DN)
No dominant-negative mutations reported; BBS5 is typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • BBSome (GO:0034464) | • protein binding (GO:0005515) |
| • cilium assembly (GO:0060271) | • cell projection organization (GO:0030030) |
| • cilium (GO:0005929) |
Pathways
• BBSome-mediated ciliary trafficking (Reactome: R-HSA-5620912)
• Ciliopathy pathway (KEGG: hsa05016)
Protein Summary
BBS5 is a 342-amino acid protein (37 kDa) that localizes to the basal body and ciliary axoneme. It contains a conserved N-terminal domain and a C-terminal coiled-coil region. As part of the BBSome, it mediates the transport of signaling receptors (e.g., G protein-coupled receptors) into and out of cilia. Loss of BBS5 disrupts ciliary signaling, leading to the pleiotropic features of Bardet-Biedl syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BBS5 Knockout HEK293 Cell Line | EDJ-KQ9227 | Human | 129880 | Details Get a Quote |
| BBS5 Knockout A-549 Cell Line | EDJ-KQ35804 | Human | 129880 | Details Get a Quote |
| BBS5 Knockout HCT 116 Cell Line | EDJ-KQ35805 | Human | 129880 | Details Get a Quote |
| BBS5 Knockout HeLa Cell Line | EDJ-KQ35806 | Human | 129880 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
