C2CD3

Cilia effects upon perturbation of C2CD3

Cilia number / % ciliated:

Decreased cilia number

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-8.13) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-3.56) PMID:29459680

Phenotypes

Mouse phenotype:

abnormal embryo size, decreased lymphocyte cell number, preweaning lethality, complete penetrance, enlarged uriry bladder, hyperactivity, embryonic growth retardation, increased neutrophil cell number, embryonic lethality prior to tooth bud stage, abnormal skin morphology

Human ciliopathy phenotype:

Short rib-polydactyly syndrome, Verma-Naumoff type

Ciliopathy associations

• Orofaciodigital Syndrome

References: PMID:24997988, PMID:33875766

Subcellular localization

basal body, centrosome

References: PMID:41005307, PMID:19004860, PMID:24469809, PMID:24997988

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Protein processing & maturation
• Signaling (Hedgehog, GPCRs, ion channels)

Function

C2cd3 is an essential regulator of intracellular transduction of the Hedgehog signal (19004860). Regulates primary cilium biogenesis, recruiting centriolar distal appendage proteins. C2cd3 is essential for ciliary vesicle docking (24469809). Promotes centriolar elongation (24997988). Cilia formation in Hty mutant cells under identical conditions was greatly compromised (Fig. 7E,F) (21% ciliated, n=365). Therefore, C2cd3 is required intrinsically for the formation of cilia (PMID: 19004860).