CCDC28B

Cilia effects upon perturbation of CCDC28B

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Overexpression effect:

Longer cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

abnormal reti outer nuclear layer morphology, abnormal reti inner nuclear layer morphology

Subcellular localization

basal body, centrosome

References: PMID:23727834, PMID:29445114, PMID:23015189

Functional category

• Ciliary assembly/disassembly
• Cilia length regulation

Function

Reportes as second site modifier of the ciliopathy Bardet-Biedl syndrome. It is a positive regulator of mTOR complex 2 and interacts with SIN1 and Kinesine 1 to regulate cilia length in vivo (23727834, 29445114).Transfected hTERT-RPE cells with our RNA oligos and measured the percentage of ciliated cells and the average ciliary length in controls, CCDC28B and IFT88 knockdown cells. We observed a significant reduction in both the number and length of cilia upon knockdown of CCDC28B(PMID: 23015189). CCDC28B maintains normal cilia length and ciliogenesis, LoF shortens cilia and reduces proportion of cilia-positive cells, OE can rescue(PMID: 29445114).