BBS2 Gene - Bardet-Biedl Syndrome 2
Essential component of the BBSome complex involved in ciliary transport
Gene Information Card
| Symbol | BBS2 |
|---|---|
| Full Name | Bardet-Biedl syndrome 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q13 |
| NCBI Gene ID | 583 ncbi.nlm.nih.gov/gene/583 |
| Ensembl ID | ENSG00000125124 |
| UniProt ID | Q9BXC9 |
| OMIM ID | 606151 |
| HGNC ID | 967 |
| Aliases | BBS2L, FLJ20315, MGC119021 |
Description
BBS2 encodes a protein that is a core component of the BBSome complex, which is essential for ciliary membrane trafficking and signaling. Mutations in BBS2 cause Bardet-Biedl syndrome type 2, a pleiotropic ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal anomalies, and cognitive impairment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bardet-Biedl syndrome 2 | Loss-of-function mutations in BBS2 disrupt BBSome assembly, impairing ciliary transport and signaling | ClinVar, OMIM |
| Retinitis pigmentosa (non-syndromic) | BBS2 variants can cause isolated retinal degeneration without other syndromic features | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Low |
| Retina | 15.2 | High |
| Adipose tissue | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.2 | Cervical carcinoma cells |
| ARPE-19 | 14.1 | Retinal pigment epithelial 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, loss of function |
| c.209G>A (p.Trp70*) | Nonsense | Rare | Premature stop, loss of function |
| c.534+1G>A | Splice donor | Rare | Splicing defect, loss of function |
Mutation functional classification
Loss of Function (LOF)
Majority of BBS2 mutations are loss-of-function (nonsense, frameshift, splice site), leading to truncated or absent protein and impaired BBSome function.
Gain of Function (GOF)
No gain-of-function mutations reported for BBS2.
Dominant Negative (DN)
No dominant-negative mutations reported; BBS2-associated disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • BBSome (GO:0034464) | • cilium assembly (GO:0060271) |
| • intraciliary transport involved in cilium assembly (GO:0035735) | • protein binding (GO:0005515) |
Pathways
• BBSome-mediated ciliary trafficking (Reactome: R-HSA-5620912)
• Ciliopathy pathway (KEGG: hsa05016)
Protein Summary
The BBS2 protein is a 721-amino acid component of the BBSome, a complex of eight Bardet-Biedl syndrome proteins that mediates ciliary membrane protein trafficking. It localizes to the basal body and ciliary axoneme, and is required for proper ciliary function in multiple tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BBS2 Knockout HEK293 Cell Line | EDJ-KQ4125 | Human | 583 | Details Get a Quote |
| BBS2 Knockout A-549 Cell Line | EDJ-KQ26530 | Human | 583 | Details Get a Quote |
| BBS2 Knockout HCT 116 Cell Line | EDJ-KQ26531 | Human | 583 | Details Get a Quote |
| BBS2 Knockout HeLa Cell Line | EDJ-KQ26532 | Human | 583 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
