B9D2

B9 domain containing 2

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000123810
UniProt:
Q9BPU9
OMIM:
611951
Synonyms:
MGC4093, MKS10, MKSR-2

Cilia effects upon perturbation of B9D2

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

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.99) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-5.84) PMID:29459680
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=35, lfc=-2.91) PMID:30270045

Phenotypes

Mouse phenotype:
preweaning lethality, complete penetrance
Human ciliopathy phenotype:
Joubert syndrome; Meckel syndrome; Joubert syndrome 34

Ciliopathy associations

  • Joubert Syndrome
  • Meckel-Gruber Syndrome
  • Nephronophthisis

References: PMID:26092869, PMID:21763481

Subcellular localization

basal body, centrosome, cytosol, nucleus, transition zone

References: PMID:41410385, PMID:41005307, PMID:21493627, PMID:21763481

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Transition zone

Function

Mutated in Meckel-Gruber syndrome (type10) (OMIM 611951) although mutations only found in 1 family (PMID:21763481). Interacts with B9D2 and MKS1 at the transition zone (PMID:22179047) B9D2-KO cells the ciliogenesis efficiency was significantly reduced and the remaining cilia were shorter in length than in control RPE1 cells(https://doi.org/10.1091/mbc.E20-03-0208).