Gene
ccdc88c
- ID
- ZDB-GENE-100419-3
- Name
- coiled-coil domain containing 88C
- Symbol
- ccdc88c Nomenclature History
- Previous Names
-
- zDAPLE (1)
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have G-protein alpha-subunit binding activity; dynein light intermediate chain binding activity; and microtubule binding activity. Predicted to be involved in apical constriction; cytoplasmic microtubule organization; and cytoskeleton-dependent intracellular transport. Predicted to localize to cell junction; centrosome; and cytoplasm. Human ortholog(s) of this gene implicated in hydrocephalus and spinocerebellar ataxia type 40. Orthologous to human CCDC88C (coiled-coil domain containing 88C).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Marivin et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Marivin et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hydrocephalus | Alliance | Hydrocephalus, congenital, 1 | 236600 |
| spinocerebellar ataxia type 40 | Alliance | ?Spinocerebellar ataxia 40 | 616053 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Calponin homology domain | CH domain superfamily | HOOK, N-terminal |
|---|---|---|---|---|
|
UniProtKB:A0A2R8QCI3
|
2023 | |||
|
UniProtKB:A0A8M3AUH6
|
2000 | |||
|
UniProtKB:A0A8M3ARK5
|
1558 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
ccdc88c-201
(1)
|
Havana | 7789 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance