CDK20

Cilia effects upon perturbation of CDK20

Loss-of-function effect:

No effect

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-3.17) PMID:29459680

Phenotypes

Mouse phenotype:

cleft palate, anophthalmia, facial cleft, abnormal embryo size, preweaning lethality, complete penetrance, abnormal body wall morphology

Human ciliopathy phenotype:

Bi-allelic loss-of-function variants cause a severe developmental ciliopathy with midline brain and facial anomalies (Lemire et al. 2026, Am J Hum Genet, PMID 42409022): ventriculomegaly or hydrocephalus, midline brain anomalies, abnormal nose, midline cleft lip and/or palate, cryptophthalmos or anophthalmia, postaxial polydactyly, and a sandal-toe gap. Patient fibroblasts (homozygous c.687+6T>C) show reduced CDK20, deficient ciliogenesis, abnormal cilium morphology, and decreased Hedgehog responsiveness — consistent with the CCRK–CILK1 ciliary-length axis. Seven individuals from five unrelated families.

Ciliopathy associations

• CDK20-related Ciliopathy with Midline Brain and Facial Anomalies

References: PMID:42409022

Subcellular localization

cilia, nucleus

References: PMID:28817564

Functional category

• Ciliary assembly/disassembly
• Protein processing & maturation
• Cilia length regulation

Function

Positively and negatively controls both ciliary length and the activity of the Hh pathway, regulates a broad array of processes at levels ranging from the subcellular to the organismal (28817564). Length of wild-type and Ccrk mutant cilia under steady-state (serum starved) conditions measured, although the average cilia lengths were generally similar (2.6 and 3.5 μm, for control and mutant cilia, respectively), there was a broader distribution of cilia lengths in the mutant cells than in the control cells (std. dev. of 0.78 vs. 1.9 for control and mutant cilia, respectively)(PMID: 28817564).