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Gene: Cep290 (centrosomal protein 290) Mus musculus
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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
Orthologs:
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
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

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

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
 
More on Cep290
Alliance Gene
NCBI 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



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