RABL2B

Cilia effects upon perturbation of RABL2B

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (3 screens)

• Kim2016: Not Reported
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Kim et al. 2010 (siRNA) [siRNA]: Shorter Cilia (Area per Cilia z=-2.45) PMID:20393562

Phenotypes

Mouse phenotype:

abnormal il morphology, abnormal digit morphology, decreased bone mineral density, abnormal autopod morphology, increased circulating insulin level, impaired glucose tolerance, increased startle reflex, increased total body fat amount, decreased bone mineral content, decreased lean body mass, decreased brain weight

Mouse ciliopathy phenotype:

eye hemorrhage, abnormal testis morphology, female infertility, small testis

Subcellular localization

basal body, cilia

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Reproduction & sperm
• Signaling (Hedgehog, GPCRs, ion channels)

Function

RABL2 paralog. Functio lly redundant with RABL2A as they can rescue ciliogenesis when both genes have been knocked out (28625565). Associates with ciliary GPCR in mammalian primary cilia and regulates theirs localisation (30578315). It is recruited by CEP19 to the ciliary base where it mediates release of IFT-B from pre-docked complexes to initiate IFT ciliary entry, CEP19-RABL2B complex is then a critical regulator that initiates intraflagellar transport at the ciliary base (28625565). Variant in RABL2B gene could be a risk factor in Iranian infertile men with oligoasthenoteratozoospermia (28138870).

Model organism evidence