CCDC65

Cilia effects upon perturbation of CCDC65

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=2.89) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

no spontaneous movement, preweaning lethality, incomplete penetrance

Mouse ciliopathy phenotype:

abnormal reti morphology, hydrometra

Human ciliopathy phenotype:

primary ciliary dyskinesia

Ciliopathy associations

• Primary Ciliary Dyskinesia

Subcellular localization

basal body, cilia, transition zone

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• T cell biology
• Cell migration & adhesion
• Transition zone

Function

This gene encodes a protein that is required for proper cilia motility and regulation of dynein activity (24094744). Assembly and mainte nce of the protein components of the nexin- dynein regulatory complex (N- DRC) and thus the regulation of cilia motion. Maintaince of the integrity of N-DRC required for regulation of dynein-driven microtubule sliding (23991085, 29167384).