RUVBL2

RuvB like AAA ATPase 2

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000183207
UniProt:
Q9Y230
OMIM:
604788
Synonyms:
ECP51, INO80J, REPTIN52, RVB2, TIH2, TIP48, TIP49B

Cilia effects upon perturbation of RUVBL2

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=-9.54) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
preweaning lethality, complete penetrance

Subcellular localization

basal body, nucleus

References: PMID:41005307, PMID:29113992, PMID:23858445

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Metabolism
  • Protein processing & maturation
  • Cell migration & adhesion

Function

Essential for cilia motility in both zebrafish and mouse, through the assembly of ciliary ODAs and IDAs and cooperating with Ruvbl1. Interacts with Hsp90 to regulate the stability of both DNAI1 and DNAI2. Requires Ruvbl1 for stability (29113992). Involved in epigenetic and transcriptional regulation of cilia motility genes, interacts with LRRC6 in a complex involved in dynein arm formation, essential for cilia motility in zebrafish. Candidate gene for PCD (23858445).