BBS7

Bardet-Biedl syndrome 7

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000138686
UniProt:
Q8IWZ6
OMIM:
607590
Synonyms:
BBS2L1, FLJ10715

Cilia effects upon perturbation of BBS7

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia

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=-2.48) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=153, lfc=-2.19) PMID:30270045

Phenotypes

Mouse phenotype:
increased circulating sodium level, preweaning lethality, incomplete penetrance
Human ciliopathy phenotype:
Bardet-Biedl syndrome 7; Bardet-Biedl syndrome; Bardet-Biedl syndrome 1

Ciliopathy associations

  • Bardet-Biedl Syndrome

References: PMID:12567324, PMID:38671463, PMID:35756836, PMID:36596648, PMID:23572516

Subcellular localization

basal body, centrosome, cilia, nucleus

References: PMID:20603001, PMID:17574030

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Ciliary membrane
  • Transcription regulation

Function

Mutated in Bardet-Biedl syndrome (type 7) (OMIM :607590 ,PMID:12567324). Forms part of BBSome important for RAB8-mediated membrane protein trafficking (20603001,PMID:17574030,PMID:22072986). Compared to controls, Bbs7−/− mice show a greatly reduced number of ependymal cell cilia and the remaining cilia are shorter (PMID: 23572516)