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
- Involved in skeletal muscle fiber development. 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 | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
ccdc78-201
(1)
|
Havana | 4375 nt | |
| mRNA |
ccdc78-202
(1)
|
Havana | 695 nt |
Interactions and Pathways
No data available
Plasmids
No data available