RP2

Cilia effects upon perturbation of RP2

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.27) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:

retinitis pigmentosa

Ciliopathy associations

• Leber Congenital Amaurosis
• Retinal Dystrophy/Degeneration

References: PMID:9697692, PMID:31630094, PMID:10937588, PMID:8938433

Subcellular localization

basal body, centrosome

References: PMID:28444310, PMID:20106869, PMID:20729296, PMID:21285245, PMID:9697692

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Protein processing & maturation
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane

Function

Interacts with Arl3 and mediates the localization of GFP-Kif17 to the cilia tip and interacts with the regulator of Hedgehog (Hh) signaling Kif7. This suggests RP2 is implicated primary cilia protein trafficking via the regulation of kinesin motor proteins at the ciliary tip (28444310). Loss of RP2 leads to fragmentation of the Golgi network and dispersal of vesicles cycling cargo from the Golgi complex to the cilium, including IFT20. It indicates a role for RP2 in regulating vesicle traffic and docking from the Golgi to the base of the cilium (20106869). Interacts with polycystin 2 and regulates its trafficking within the cilium (20729296). RP2 entry to the ciliary compartiment is regulated by Importin β2 (21285245). Mutations are associated with with X- linked retinitis pigmentosa (9697692).