Gene
cep57
- ID
- ZDB-GENE-070112-522
- Name
- centrosomal protein 57
- Symbol
- cep57 Nomenclature History
- Previous Names
-
- zgc:158647
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable gamma-tubulin binding activity; identical protein binding activity; and microtubule binding activity. Predicted to act upstream of or within microtubule anchoring. Predicted to be located in cytoplasm. Human ortholog(s) of this gene implicated in mosaic variegated aneuploidy syndrome 2. Orthologous to human CEP57 (centrosomal protein 57).
- 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 |
---|---|---|---|
mosaic variegated aneuploidy syndrome 2 | Alliance | Mosaic variegated aneuploidy syndrome 2 | 614114 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Centrosomal microtubule-associated protein | Cep57 centrosome localisation domain | Cep57 centrosome microtubule-binding domain |
---|---|---|---|---|
UniProtKB:A1L249
|
440 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available