Gene
cep120
- ID
- ZDB-GENE-140106-268
- Name
- centrosomal protein 120
- Symbol
- cep120 Nomenclature History
- Previous Names
-
- zmp:0000001308 (1)
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Acts upstream of or within cilium assembly. Predicted to be active in centrosome. Human ortholog(s) of this gene implicated in Joubert syndrome 31 and short-rib thoracic dysplasia 13 with or without polydactyly. Orthologous to human CEP120 (centrosomal protein 120).
- 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
- 4 figures from Shaheen et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Joubert syndrome 31 | Alliance | Joubert syndrome 31 | 617761 |
| short-rib thoracic dysplasia 13 with or without polydactyly | Alliance | Short-rib thoracic dysplasia 13 with or without polydactyly | 616300 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
| Protein | Additional Resources | Length |
|---|---|---|
| UniProtKB:A0AB32TYS9 | InterPro | 995 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cep120-201
(1)
|
Ensembl | 2,790 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance