BBS2

Cilia effects upon perturbation of BBS2

Loss-of-function effect:

No effect

Ciliogenesis screen results (5 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.94) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=261, lfc=-2.72) PMID:30270045

Phenotypes

Mouse phenotype:

decreased lean body mass, increased bone mineral content

Human ciliopathy phenotype:

Bardet-Biedl syndrome; Bardet-Biedl syndrome 2; retinitis pigmentosa; retinitis pigmentosa 74; Bardet-Biedl syndrome 1

Ciliopathy associations

• Acrocallosal Syndrome
• Bardet-Biedl Syndrome
• Retinal Dystrophy/Degeneration

Subcellular localization

basal body, cilia, transition zone

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• T cell biology
• Reproduction & sperm
• Cell migration & adhesion
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane
• Cardiac & muscle development
• Muscle contraction & physiology
• Transition zone
• ECM & connective tissue
• Transcription regulation

Function

Mutated in Bardet-Biedl syndrome (type 2) (OMIM :606151,PMID:11285252). Forms part of BBSome, important for RAB8-mediated membrane protein trafficking (20603001,PMID:17574030,PMID:22072986). Although wild-type and Bbs2−/− cilia had the same average length, there was greater variation in the mutant epithelia (PMID: 18299575).