KCTD5

Cilia effects upon perturbation of KCTD5

Loss-of-function effect:

No effect

Ciliogenesis screen results (5 screens)

• Kim2016: No effect
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-9.61) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-2.46, ciliated=18.8%) PMID:26595381
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=278, lfc=0.57) PMID:30270045

Phenotypes

Mouse phenotype:

embryonic lethality prior to tooth bud stage, preweaning lethality, complete penetrance

Mouse ciliopathy phenotype:

decreased circulating calcium level

Subcellular localization

cilia associated gene, cytosol, nucleus

Functional category

• Ciliary assembly/disassembly
• Signaling (Hedgehog, GPCRs, ion channels)

Function

18 genes identified whose loss reduced both basal Hedgehog sig ling and sig ling in response to SAG treatment (positive regulators), 20 genes whose loss activated the pathway without need for ligand (negative regulators), and two genes, Kctd5 and Ube2l3, that increased basal expression but reduced expression driven by SAG ( 34161574) Fig. S4 shows that Arih2, Maea, Mgrn1, Ube2l3, Kctd5, Bap1, Skp2, and Skp1a do not affect ciliogenesis. (34161574)