BBS7 Gene - Bardet-Biedl Syndrome 7
BBS7: A core component of the BBSome complex involved in ciliary transport and associated with Bardet-Biedl syndrome
Gene Information Card
| Symbol | BBS7 |
|---|---|
| Full Name | Bardet-Biedl syndrome 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q27 |
| NCBI Gene ID | 55212 ncbi.nlm.nih.gov/gene/55212 |
| Ensembl ID | ENSG00000138686 |
| UniProt ID | Q8IWZ6 |
| OMIM ID | 607590 |
| HGNC ID | 18758 |
| Aliases | BBS2L2, FLJ10715 |
Description
The BBS7 gene encodes a protein that is a core component of the BBSome complex, a conserved complex involved in ciliary membrane trafficking and signaling. BBS7 is essential for the assembly and function of primary cilia, and mutations in this gene cause Bardet-Biedl syndrome type 7, a pleiotropic disorder characterized by retinal dystrophy, obesity, polydactyly, renal abnormalities, and cognitive impairment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bardet-Biedl syndrome 7 | Loss-of-function mutations in BBS7 disrupt BBSome assembly, impairing ciliary transport and signaling, leading to ciliopathy phenotypes. | OMIM #607590; ClinVar; multiple case reports |
| Retinitis pigmentosa | BBS7 mutations can cause non-syndromic retinal degeneration due to defective ciliary function in photoreceptors. | ClinVar; literature (e.g., PMID: 20683928) |
| Obesity | BBS7 deficiency affects hypothalamic ciliary signaling, contributing to hyperphagia and obesity in Bardet-Biedl syndrome. | OMIM; literature (e.g., PMID: 15154114) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Kidney | 7.1 | Medium |
| Liver | 5.2 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | High expression in embryonic kidney cells |
| HeLa | 7.5 | Moderate expression in cervical cancer cells |
| SH-SY5Y | 6.8 | Moderate expression in neuroblastoma cells |
| HepG2 | 4.3 | Low expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.472C>T (p.Arg158*) | Nonsense | Rare | Premature stop codon; loss of function |
| c.1045_1046delCT (p.Leu349Valfs*2) | Frameshift | Rare | Frameshift leading to truncated protein; loss of function |
| c.632G>A (p.Arg211Gln) | Missense | Rare | Amino acid substitution; likely damaging to BBSome interaction |
Mutation functional classification
Loss of Function (LOF)
Most BBS7 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to truncated or absent protein and disrupted BBSome function.
Gain of Function (GOF)
No gain-of-function mutations reported for BBS7.
Dominant Negative (DN)
No dominant-negative mutations reported; BBS7-associated disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • BBSome (GO:0034464) | • protein binding (GO:0005515) |
| • cilium assembly (GO:0060271) | • intraciliary transport (GO:0042073) |
| • cell projection organization (GO:0030030) |
Pathways
• BBSome-mediated ciliary trafficking (Reactome: R-HSA-5620912)
• Cargo trafficking to the primary cilium (KEGG: hsa05016)
Protein Summary
The BBS7 protein is a 715-amino acid component of the BBSome complex, which consists of BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9, and BBIP10. BBS7 interacts with other BBSome subunits to facilitate the transport of membrane proteins to the primary cilium. It contains a conserved domain (BBS7 domain) and is localized to the basal body and ciliary axoneme. Defects in BBS7 impair ciliary function, leading to Bardet-Biedl syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BBS7 Knockout HEK293 Cell Line | EDJ-KQ11801 | Human | 55212 | Details Get a Quote |
| BBS7 Knockout A-549 Cell Line | EDJ-KQ41504 | Human | 55212 | Details Get a Quote |
| BBS7 Knockout HCT 116 Cell Line | EDJ-KQ41505 | Human | 55212 | Details Get a Quote |
| BBS7 Knockout HeLa Cell Line | EDJ-KQ41506 | Human | 55212 | Details Get a Quote |
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