Gene
cc2d2a
- ID
- ZDB-GENE-030131-2291
- Name
- coiled-coil and C2 domain containing 2A
- Symbol
- cc2d2a Nomenclature History
- Previous Names
-
- fc03c12
- sentinel (1)
- wu:fc03c12
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Involved in photoreceptor cell outer segment organization. Localizes to photoreceptor connecting cilium. Used to study Joubert syndrome. Human ortholog(s) of this gene implicated in COACH syndrome; Joubert syndrome 9; Meckel syndrome 6; and intellectual disability. Is expressed in central nervous system; pronephric duct; and receptor cell (sensu Animalia). Orthologous to human CC2D2A (coiled-coil and C2 domain containing 2A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 14 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Joubert syndrome 9 | Alliance | Joubert syndrome 9 | 612285 |
| Meckel syndrome 6 | Alliance | Meckel syndrome 6 | 612284 |
| COACH syndrome 2 | 619111 | ||
| Retinitis pigmentosa 93 | 619845 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Joubert syndrome | cc2d2aw38/w38 | standard conditions | Bachmann-Gagescu et al., 2011 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | C2 domain | C2 domain superfamily | CC2D2A, N-terminal, C2 domain |
|---|---|---|---|---|
|
UniProtKB:E7F3T4
|
1647 | |||
|
UniProtKB:A0A2R8QEZ0
|
1675 |
- Genome Browsers
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-cc2d2a | monoclonal | IgG1 | Mouse |
|
9 |
Plasmids
No data available