CDC42

Cilia effects upon perturbation of CDC42

Cilia number / % ciliated:

Incrased cilia number

Loss-of-function effect:

Longer cilia

Overexpression effect:

Shorter cilia

Ciliogenesis screen results (5 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.39) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=243, lfc=0.97) PMID:30270045

Phenotypes

Mouse phenotype:

increased leukocyte cell number, embryonic lethality prior to tooth bud stage, increased neutrophil cell number, increased circulating hdl cholesterol level, increased lymphocyte cell number, decreased circulating serum albumin level, decreased mean corpuscular hemoglobin concentration, preweaning lethality, complete penetrance, increased circulating cholesterol level, cornea opacity, increased circulating alkaline phosphatase level, decreased hemoglobin content, increased red blood cell distribution width, embryonic lethality prior to organogenesis

Mouse ciliopathy phenotype:

enlarged kidney, abnormal reti morphology, abnormal cranium morphology, increased circulating aspartate transamise level

Human ciliopathy phenotype:

macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

Subcellular localization

cilia, cytosol

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• T cell biology
• Viral interactions
• Cell migration & adhesion
• Signaling (Hedgehog, GPCRs, ion channels)
• Cardiac & muscle development
• Muscle contraction & physiology
• Transcription regulation

Function

The primary cilium is linked to OPN sig ling pathway and actin cytoskeleton pathway via CD44 and Cdc42(32339903). BBSome-deficient cells activate intraciliary CDC42 to trigger actin-dependent ciliary ectocytosis(PMID: 39587330). Longer axonemes can amplify Hh signaling, except when aPKC is disrupted, reinforcing the importance of the Cdc42-aPKC-Gli axis in actin-dependent regulation of primary cilia signaling (PMID: 29945904).