BBS12 report

I. Expression across cell types

Insufficient scRNA-seq data for expression of BBS12 at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of BBS12 at tissue level.

III. Associated gene sets

GO_0051131Biological processchaperone-mediated protein complex assembly
GO_0045494Biological processphotoreceptor cell maintenance
GO_0045599Biological processnegative regulation of fat cell differentiation
GO_0048863Biological processstem cell differentiation
GO_0042073Biological processintraciliary transport
GO_0042755Biological processeating behavior
GO_2000737Biological processnegative regulation of stem cell differentiation
GO_0045444Biological processfat cell differentiation
GO_0005929Cellular componentcilium
GO_0005515Molecular functionprotein binding
GO_0005524Molecular functionATP binding

IV. Literature review

[source]
Gene nameBBS12
Protein nameBardet-Biedl syndrome 12 protein
Bardet-Biedl syndrome 12
Truncated Bardet-Biedl syndrome 12 protein
SynonymsC4orf24
DescriptionFUNCTION: 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 . Involved in adipogenic differentiation . .

AccessionsC9J8H7
Q6ZW61
A0A1B1SMW0
ENST00000433287.1
ENST00000542236.5
ENST00000314218.8