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Gene: Cep290 (centrosomal protein 290) Mus musculus
Symbol: Cep290
Name: centrosomal protein 290
Description: Predicted to have identical protein binding activity. Involved in several processes, including animal organ development; non-motile cilium assembly; and photoreceptor cell maintenance. Localizes to the MKS complex; centriolar satellite; and photoreceptor cell cilium. Predicted to colocalize with the gamma-tubulin complex. Used to study Joubert syndrome 5; Leber congenital amaurosis 10; cystic kidney disease; and visceral heterotaxy. 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); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 4-hydroxynon-2-enal; carbon nanotube.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: b2b1454Clo; b2b1752Clo; Bardet-Biedl syndrome 14 protein homolog; BC004690; centrosomal protein of 290 kDa; MGC7859; nephrocystin-6; Nphp6
Homo sapiens (human) : CEP290 (centrosomal protein 290)  HGNC  Alliance
Rattus norvegicus (Norway rat) : Cep290 (centrosomal protein 290)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Cep290 (centrosomal protein 290)
Pan paniscus (bonobo/pygmy chimpanzee) : CEP290 (centrosomal protein 290)
Canis lupus familiaris (dog) : CEP290 (centrosomal protein 290)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Cep290 (centrosomal protein 290)
Sus scrofa (pig) : CEP290 (centrosomal protein 290)
more info ...
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm3810100,487,548 - 100,575,671 (+)NCBIGRCm38GRCm38mm10GRCm38
MGSCv371099,950,923 - 100,036,289 (+)NCBIGRCm37mm9NCBIm37
Celera10102,420,230 - 102,505,600 (+)NCBICelera
Cytogenetic Map10 D1NCBI
cM Map1051.48NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
QTLs in Region (GRCm38)
miRNA Target Status



Nucleotide Sequences
Protein Sequences

Additional Information

External Database Links
More on Cep290
Alliance Gene
Ensembl Gene
JBrowse: mm9 mm10
MGI Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1323204
Created: 2005-01-12
Species: Mus musculus
Last Modified: 2019-11-27
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.