Gene
ccdc78
- ID
- ZDB-GENE-060301-1
- Name
- coiled-coil domain containing 78
- Symbol
- ccdc78 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Acts upstream of or within skeletal muscle fiber development. Predicted to be located in membrane. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in centronuclear myopathy 4. Orthologous to human CCDC78 (coiled-coil domain containing 78).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Majczenko et al., 2012
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| centronuclear myopathy 4 | Alliance | ?Centronuclear myopathy 4 | 614807 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Coiled-coil domain-containing protein 78 | Domain of unknown function DUF4472 |
|---|---|---|---|
|
UniProtKB:A0A8M9QA75
|
321 | ||
|
UniProtKB:A0A8M3B6V7
|
533 | ||
|
UniProtKB:A0A8M9PT91
|
547 | ||
|
UniProtKB:E7F7G2
|
547 | ||
|
UniProtKB:A0A8M3APF6
|
505 | ||
|
UniProtKB:A0A8M9PEB9
|
556 | ||
|
UniProtKB:A0A8M9PZ82
|
505 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ccdc78-201
(1)
|
Ensembl | 4,375 nt | ||
| mRNA |
ccdc78-202
(1)
|
Ensembl | 695 nt |
Interactions and Pathways
No data available
Plasmids
No data available