Gene
ccdc50a
- ID
- ZDB-GENE-150115-1
- Name
- coiled-coil domain containing 50a
- Symbol
- ccdc50a Nomenclature History
- Previous Names
-
- ccdc50
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to enable ubiquitin protein ligase binding activity. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 44 and mantle cell lymphoma. Orthologous to human CCDC50 (coiled-coil domain containing 50).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant nonsyndromic deafness 44 | Alliance | ?Deafness, autosomal dominant 44 | 607453 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Coiled-coil domain-containing protein 50 | Coiled-coil domain-containing protein 50, N-terminal |
|---|---|---|---|
|
UniProtKB:A0A8M9Q577
|
581 | ||
|
UniProtKB:A0A8M9PG00
|
309 | ||
|
UniProtKB:A0A8M3AN52
|
581 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ccdc50a-201
(1)
|
Ensembl | 5,962 nt | ||
| mRNA |
ccdc50a-202
(1)
|
Ensembl | 6,043 nt |
Interactions and Pathways
No data available
Plasmids
No data available