C2CD3

C2 domain containing 3 centriole elongation regulator

Ensembl:
ENSG00000168014
UniProt:
Q4AC94
OMIM:
615944
Synonyms:
DKFZP586P0123

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
Mouse ciliopathy phenotype:
abnormal uterus morphology
Human ciliopathy phenotype:
Short rib-polydactyly syndrome, Verma-Naumoff type

Ciliopathy associations

  • Orofaciodigital Syndrome

Subcellular localization

basal body, centrosome

Functional category

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

Function

C2cd3 is an essential regulator of intracellular transduction of the Hedgehog sig l (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).

Model organism evidence

Mus musculus (1 reference)

The protein C2CD3 is critical for distal appendage assembly, with mutations linked to orofaciodigital syndrome and other ciliopathies.

PMIDs: 41364719

C. elegans (1 reference)

The microtubule-binding protein SAS-1 is homologous to the human ciliopathy component C2CD3 and contributes to centriole integrity in C.

PMIDs: 41124206