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 non-motile cilium assembly and protein localization to ciliary transition zone. Acts upstream of or within photoreceptor cell outer segment organization. Located in photoreceptor connecting cilium. Is expressed in central nervous system; pronephric duct; and receptor cell (sensu Animalia). Used to study Joubert syndrome. Human ortholog(s) of this gene implicated in Joubert syndrome 9; Meckel syndrome 6; and intellectual disability. 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