BBS10 Bardet-Biedl Syndrome 10 Gene
Chaperonin-like protein essential for ciliary function
Gene Information Card
| Symbol | BBS10 |
|---|---|
| Full Name | Bardet-Biedl syndrome 10 |
| Gene Type | Protein-coding |
| Chromosomal Location | 12q21.2 |
| NCBI Gene ID | 79738 ncbi.nlm.nih.gov/gene/79738 |
| Ensembl ID | ENSG00000139269 |
| UniProt ID | Q8TAM1 |
| OMIM ID | 610148 |
| HGNC ID | 26291 |
| Aliases | C12orf58, FLJ23560, BBS10 |
Description
BBS10 encodes a chaperonin-like protein that is part of the BBS/CCT complex, essential for the assembly and trafficking of ciliary proteins. Mutations in BBS10 are a common cause of Bardet-Biedl syndrome (BBS), a pleiotropic ciliopathy characterized by retinal dystrophy, obesity, polydactyly, renal anomalies, and cognitive impairment. The protein localizes to the centrosome and basal body and is required for ciliogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bardet-Biedl syndrome 10 (BBS10) | Loss-of-function mutations disrupt chaperonin function, impairing ciliary protein assembly and leading to ciliary dysfunction. | ClinVar, OMIM #615987 |
| Bardet-Biedl syndrome (general) | Biallelic pathogenic variants in BBS10 cause BBS; founder mutations (e.g., p.Cys91LeufsTer5) are common in certain populations. | NCBI Gene, OMIM #209900 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Brain | 6.2 | Low |
| Liver | 4.1 | Low |
| Heart | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.2 | Cervical carcinoma cells |
| HepG2 | 5.6 | Hepatocellular carcinoma cells |
| SH-SY5Y | 4.3 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.271dupT (p.Cys91LeufsTer5) | Frameshift | Founder mutation in North African and European populations | Loss of function; truncated protein |
| c.91G>T (p.Glu31Ter) | Nonsense | Rare | Premature stop; loss of function |
| c.632G>A (p.Arg211Gln) | Missense | Rare | Likely loss of function; impaired chaperonin activity |
| c.1169T>G (p.Leu390Arg) | Missense | Rare | Loss of function; disrupts protein folding |
Mutation functional classification
Loss of Function (LOF)
Majority of BBS10 pathogenic variants are loss-of-function (frameshift, nonsense, splice-site), leading to truncated or absent protein.
Gain of Function (GOF)
No gain-of-function mutations reported for BBS10.
Dominant Negative (DN)
No dominant-negative mutations reported; BBS10 follows autosomal recessive inheritance.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Bardet-Biedl syndrome pathway (Reactome: R-HSA-5620912)
• Cilium assembly (Reactome: R-HSA-5617833)
• Chaperonin-mediated protein folding (Reactome: R-HSA-390466)
Protein Summary
BBS10 is a 723-amino acid chaperonin-like protein (UniProt Q8TAM1) that forms part of the BBS/CCT complex. It contains an ATP-binding domain and is essential for the folding and assembly of proteins required for ciliary function. The protein localizes to centrosomes and basal bodies. Loss of BBS10 function disrupts ciliogenesis, leading to the multisystemic features of Bardet-Biedl syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BBS10 Knockout HEK293 Cell Line | EDJ-KQ12520 | Human | 79738 | Details Get a Quote |
| BBS10 Knockout A-549 Cell Line | EDJ-KQ41507 | Human | 79738 | Details Get a Quote |
| BBS10 Knockout HCT 116 Cell Line | EDJ-KQ41508 | Human | 79738 | Details Get a Quote |
| BBS10 Knockout HeLa Cell Line | EDJ-KQ41509 | Human | 79738 | Details Get a Quote |
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