Cc2d2a Gene Summary [Rat]
Predicted to be involved in non-motile cilium assembly and protein localization to ciliary transition zone. Predicted to act upstream of or within several processes, including cilium assembly; embryonic brain development; and neural tube closure. Predicted to be part of MKS complex. Predicted to be active in ciliary transition zone. Human ortholog(s) of this gene implicated in Joubert syndrome 9; Meckel syndrome 6; intellectual disability; and retinitis pigmentosa. Orthologous to human CC2D2A (coiled-coil and C2 domain containing 2A). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Cc2d2a |
| Official Name | coiled-coil and C2 domain containing 2A [Source:RGD Symbol;Acc:1561042] |
| Ensembl ID | ENSRNOG00000059715 |
| Bio databases IDs | |
| Aliases | coiled-coil and C2 domain containing 2A |
| Synonyms | 5730509K17Rik, b2b1035Clo, COACH2, coiled-coil and C2 domain containing 2A, JBTS9, MKS6, RGD1561042, RP93 |
| Species | Rat, Rattus norvegicus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in rat Cc2d2a often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- CC2D2A N-terminal C2 domain
- Family of unknown function (DUF5523)
- protein binding
- Domain of unknown function (DUF4200)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- joubert syndrome type 9
- meckel syndrome type 6
- COACH syndrome type 1
- Joubert syndrome type 1
- Meckel syndrome
- COACH syndrome type 2
- retinal dystrophy
- ciliopathy
- hereditary disorder
role in cell
- formation
- formation in
- assembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- ciliary transition zone
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the rat Cc2d2a gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heart development
- neural tube closure
- cilium morphogenesis
- kidney development
- camera-type eye development
- smoothened signaling pathway
- axoneme assembly
- motile cilium assembly
- determination of left/right symmetry
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- cytosol
- ciliary transition zone
- TCTN-B9D complex