Gene
cep290
- ID
- ZDB-GENE-041111-243
- Name
- centrosomal protein 290
- Symbol
- cep290 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Involved in several processes, including DNA damage response, detection of DNA damage; animal organ development; and photoreceptor cell maintenance. Predicted to localize to centriolar satellite and nucleus. Used to study ciliopathy. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 14; Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4; and Senior-Loken syndrome. Is expressed in gut; nervous system; notochord; and post-vent region. Orthologous to human CEP290 (centrosomal protein 290).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
- All Phenotype Data
- 50 figures from 15 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Bardet-Biedl syndrome 14 | Alliance | ?Bardet-Biedl syndrome 14 | 615991 |
Joubert syndrome 5 | Alliance | Joubert syndrome 5 | 610188 |
Leber congenital amaurosis 10 | Alliance | Leber congenital amaurosis 10 | 611755 |
Meckel syndrome 4 | Alliance | Meckel syndrome 4 | 611134 |
Senior-Loken syndrome | Alliance | Senior-Loken syndrome 6 | 610189 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
ciliopathy | WT + MO4-cep290 | control | Tobin et al., 2008 |
Leber congenital amaurosis | cep290sa1383/sa1383 | standard conditions | Wang et al., 2020 |
retinal degeneration | cep290fh297/fh297 | standard conditions | Fogerty et al., 2022 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Centrosomal protein of 290kDa | Centrosomal protein of 290kDa, coiled-coil region |
---|---|---|---|
UniProtKB:A0A8M3AZL6
|
2741 | ||
UniProtKB:F8W5U5
|
2439 | ||
UniProtKB:A0A8M2BA16
|
2734 | ||
UniProtKB:A0A8M3AP13
|
2446 | ||
UniProtKB:A0A8M3AWH7
|
2734 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
cep290-201
(1)
|
Havana | 7706 nt | |
mRNA |
cep290-202
(1)
|
Ensembl | 7580 nt |
Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab2-cep290 | polyclonal | Rabbit |
|
2 | |||
Ab3-cep290 | polyclonal | Rabbit |
|
1 |
Plasmids
No data available