GO_REF:0000024
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
GO_REF:0000033
Annotation inferences using phylogenetic trees
GO_REF:0000044
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
GO_REF:0000107
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
PMID:22179047
A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.
Reactome:R-HSA-5617816
RAB3IP stimulates nucleotide exchange on RAB8A
Reactome:R-HSA-5626681
Recruitment of transition zone proteins
Reactome:R-HSA-5638009
CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body
PMID:24947469
Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis.
PMID:21725307
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
PMID:18950740
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
PMID:26485645
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.
PMID:21816947
The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking.
PMID:29281629
Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors.
PMID:22983010
Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment.
PMID:21422230
MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.
file:human/CC2D2A/CC2D2A-deep-research-falcon.md
Falcon deep research report for CC2D2A (human)