RABL2A

Cilia effects upon perturbation of RABL2A

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]: Ciliogenesis Defect (z=-14.31) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-5.62) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=16, lfc=-2.78) PMID:30270045

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

Ciliopathy associations

• Male Infertility

References: PMID:33075816

Subcellular localization

basal body

References: PMID:41005307, PMID:28625565, PMID:30578315, PMID:33075816

Functional category

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

Function

RABL2 paralog. Functionally redundant with RABL2B 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). Two variants in RABL2A were identified as cause of male infertility and ciliopathy (33075816). RABL2 might play a role in trafficking of ciliary proteins as well as ciliogenesis. RABL2A/B knock out lead to decrease in number of primary cilia in RPE1 cells (30578315).