General Information:

Id: 7,127
Diseases: Joubert syndrome 9 - [OMIM]
Meckel syndrome, type 6 - [OMIM]
Mus musculus
article
Reference: [PMID: 24947469]

Interaction Information:

Comment Cilia are absent in Cc2d2a-/- embryonic node and other somatic tissues; disruption of cilia-dependent Shh signalling appears to underlie exencephaly in mutant embryos. The Cc2d2a(-/-) mouse embryonic fibroblasts (MEFs) lack cilia, although mother centrioles and pericentriolar proteins are detected.
Formal Description
Interaction-ID: 70217

gene/protein

CC2D2A

affects_quantity of

cellular component

cilium

Comment Shh signalling is perturbed in Cc2d2a-/- embryos.
Formal Description
Interaction-ID: 70218

gene/protein

CC2D2A

affects_activity of

Comment Cc2d2a-/- fibroblasts have basal body but not ciliary axoneme.
Formal Description
Interaction-ID: 70219

gene/protein

CC2D2A

affects_activity of

cellular component

axoneme

Comment The anti-Odf2 signal at the mother centriole (MC) was dramatically reduced in Cc2d2a-/- MEFs compared with the wild type.
Formal Description
Interaction-ID: 70220

gene/protein

CC2D2A

affects_quantity of

gene/protein

ODF2

at the mother centriole
Comment The trichoplein signal was significantly reduced at the mother centriole (MC) in Cc2d2a-/- MEFs.
Formal Description
Interaction-ID: 70221

gene/protein

CC2D2A

affects_quantity of

gene/protein

TCHP

at the mother centriole
Comment CC2D2A localizes to subdistal appendages (SDA), which anchor cytoplasmic microtubules and prime the mother centriole for axoneme biogenesis.
Formal Description
Interaction-ID: 70222

gene/protein

CC2D2A

is localized in

cellular component

centriolar subdistal appendage