Gene

cep290

ID
ZDB-GENE-041111-243
Name
centrosomal protein 290
Symbol
cep290 Nomenclature History
Previous Names
  • im:7145703
  • im:7147820 (1)
  • nephrocystin-6 (1)
  • nphp6 (1)
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. Is expressed in gut; nervous system; notochord; and post-vent region. 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. Orthologous to human CEP290 (centrosomal protein 290).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
7 figures from 6 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
24 figures from 9 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cep290 Human Ortholog
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
Associated With cep290 Via Experimental Models
Human Disease Fish Conditions Citations
ciliopathy WT + MO4-cep290 control Tobin et al., 2008
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR032321 Centrosomal protein of 290kDa, coiled-coil region
Family IPR026201 Centrosomal protein of 290kDa
Domain Details Per Protein
Protein Length Centrosomal protein of 290kDa Centrosomal protein of 290kDa, coiled-coil region
UniProtKB:P85001 2439
UniProtKB:F8W5U5 2439
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations