BBS12 Gene
Bardet-Biedl Syndrome 12
Gene Information Card
| Symbol | BBS12 |
|---|---|
| Full Name | Bardet-Biedl syndrome 12 |
| Gene Type | Protein-coding |
| Chromosomal Location | 4q27 |
| NCBI Gene ID | 166379 ncbi.nlm.nih.gov/gene/166379 |
| Ensembl ID | ENSG00000181004 |
| UniProt ID | Q6ZW61 |
| OMIM ID | 610683 |
| HGNC ID | 26648 |
| Aliases | C4orf24, FLJ35630 |
Description
BBS12 (Bardet-Biedl syndrome 12) is a protein-coding gene located on chromosome 4q27. It encodes a component of the BBSome, a complex involved in ciliary trafficking and function. Mutations in BBS12 cause Bardet-Biedl syndrome type 12, an autosomal recessive ciliopathy characterized by retinal dystrophy, obesity, polydactyly, renal anomalies, and cognitive impairment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bardet-Biedl syndrome 12 (BBS12) | Loss-of-function mutations in BBS12 disrupt BBSome assembly and ciliary transport, leading to defective cilia signaling. | OMIM #610683; multiple case reports and functional studies confirm causality. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.6 | Medium |
| Kidney | 5.2 | Low |
| Brain | 3.1 | Low |
| Liver | 2.4 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.5 | Embryonic kidney cell line |
| HeLa | 3.2 | Cervical cancer cell line |
| HepG2 | 2.1 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1483C>T (p.Arg495*) | Nonsense | Rare | Premature stop; loss of function |
| c.1390G>A (p.Gly464Arg) | Missense | Rare | Impaired BBSome assembly |
| c.1966_1967del (p.Leu656Glufs*3) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most BBS12 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to truncated or absent protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for BBS12.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0034464 (BBSome) |
| • GO:0060271 (cilium assembly) | • GO:0007224 (smoothened signaling pathway) |
Pathways
• BBSome-mediated ciliary trafficking
• Hedgehog signaling pathway
Protein Summary
The BBS12 protein is a 710-amino-acid component of the BBSome complex, which is essential for ciliary membrane protein trafficking. It localizes to the basal body and cilia. Loss of BBS12 disrupts ciliary function, leading to the multisystemic features of Bardet-Biedl syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BBS12 Knockout HEK293 Cell Line | EDJ-KQ12098 | Human | 166379 | Details Get a Quote |
| BBS12 Knockout A-549 Cell Line | EDJ-KQ39513 | Human | 166379 | Details Get a Quote |
| BBS12 Knockout HCT 116 Cell Line | EDJ-KQ40770 | Human | 166379 | Details Get a Quote |
| BBS12 Knockout HeLa Cell Line | EDJ-KQ40771 | Human | 166379 | Details Get a Quote |
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