BBS9: Bardet-Biedl Syndrome 9
A core component of the BBSome complex involved in ciliary trafficking and associated with Bardet-Biedl syndrome
Gene Information Card
| Symbol | BBS9 |
|---|---|
| Full Name | Bardet-Biedl syndrome 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p14.3 |
| NCBI Gene ID | 27241 ncbi.nlm.nih.gov/gene/27241 |
| Ensembl ID | ENSG00000122507 |
| UniProt ID | Q3SXM5 |
| OMIM ID | 607968 |
| HGNC ID | 30000 |
| Aliases | B1, PTHB1, BBS9, D2S1408 |
Description
BBS9 encodes a protein that is a core component of the BBSome complex, which is essential for ciliary membrane trafficking and signaling. Mutations in BBS9 cause Bardet-Biedl syndrome (BBS), a pleiotropic ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal abnormalities, and cognitive impairment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bardet-Biedl syndrome 9 | Loss-of-function mutations in BBS9 disrupt BBSome assembly, impairing ciliary transport and signaling | ClinVar, OMIM |
| Retinitis pigmentosa (non-syndromic) | BBS9 variants may contribute to isolated retinal degeneration | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Kidney | 12.8 | Medium |
| Brain | 10.5 | Medium |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | High expression |
| HeLa | 12.1 | Moderate expression |
| HepG2 | 8.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | Rare | Loss of function; associated with BBS |
| c.479G>A (p.Arg160Gln) | Missense | Rare | Likely pathogenic; disrupts BBSome interaction |
| c.1045_1046del (p.Leu349fs) | Frameshift | Rare | Loss of function; truncates protein |
Mutation functional classification
Loss of Function (LOF)
Most BBS9 mutations are loss-of-function, leading to BBSome dysfunction and ciliary defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • BBSome (GO:0034464) | • protein binding (GO:0005515) |
| • cilium assembly (GO:0060271) | • cell projection organization (GO:0030030) |
| • cytoplasm (GO:0005737) |
Pathways
• BBSome-mediated ciliary trafficking
• Ciliopathy pathway
Protein Summary
The BBS9 protein is a 887-amino acid component of the BBSome, a complex of eight Bardet-Biedl syndrome proteins that mediates the transport of membrane proteins to the primary cilium. It localizes to the basal body and ciliary membrane, and its dysfunction leads to impaired ciliary signaling and the multisystemic features of Bardet-Biedl syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BBS9 Knockout HEK293 Cell Line | EDJ-KQ8722 | Human | 27241 | Details Get a Quote |
| BBS9 Knockout A-549 Cell Line | EDJ-KQ34959 | Human | 27241 | Details Get a Quote |
| BBS9 Knockout HCT 116 Cell Line | EDJ-KQ34960 | Human | 27241 | Details Get a Quote |
| BBS9 Knockout HeLa Cell Line | EDJ-KQ34961 | Human | 27241 | Details Get a Quote |
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