CC2D2A

Cilia effects upon perturbation of CC2D2A

Cilia number / % ciliated:

Severe reduction/essentially none

Loss-of-function effect:

Loss of cilia

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.62) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-4.48) PMID:29459680
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=195, lfc=-2.77) PMID:30270045

Phenotypes

Human ciliopathy phenotype:

Joubert syndrome 9; Joubert syndrome with hepatic defect; Meckel syndrome, type 6; Meckel syndrome; retinitis pigmentosa 93; Joubert syndrome; Joubert syndrome with oculorenal defect; ciliopathy

Ciliopathy associations

• COACH Syndrome
• Joubert Syndrome
• Meckel-Gruber Syndrome
• Nephronophthisis

References: PMID:19574260, PMID:22241855, PMID:18513680, PMID:34435324, PMID:23023437, PMID:38502237, PMID:21110233, PMID:36533556, PMID:30267408

Subcellular localization

basal body, cilia, transition zone

References: PMID:41410385, PMID:24947469, PMID:26485645, PMID:29281629, PMID:18950740, PMID:18513680

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Transition zone

Function

It is essential for the assembly of subdistal appendages. Protein is required for cilia formation and predicted to be involved in calcium- dependent membrane targeting. (PMID 24947469). Interacts with CEP290 in the basal body (PMID 24947469, 18950740). CC2D2A associates with NINL to provide a docking point for incoming transport vesicles at the entrance of ciliary compartments (26485645). Required for vesicle fusion (29281629). Play a role in Ca2+ regulated signalling pathways (18513680). Cilia are absent in Cc2d2a−/− embryonic node and other somatic tissues, disruption of cilia-dependent Shh signalling appears to underlie exencephaly in mutant embryos (https://doi.org/10.1038/ncomms5207).