BBS12
Bardet-Biedl syndrome 12 protein
Protein Summary
Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). Involved in adipogenic differentiation (PubMed:19190184). The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
- ENST00000314218
- ENSP00000319062
- ENSG00000181004
- ENST00000542236
- ENSP00000438273
- C4orf24
- C4orf24
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
histone modification site profile | 0.89 | ||
molecular function | 0.76 | ||
tissue sample | 0.74 | ||
phenotype | 0.63 | ||
kinase perturbation | 0.6 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 21.76 (req: < 5)
Gene RIFs: 7 (req: <= 3)
Antibodies: 43 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 21.76 (req: >= 5)
Gene RIFs: 7 (req: > 3)
Antibodies: 43 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 6
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0