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Cep290
Gene Detail
Symbol

Name
ID
Cep290
centrosomal protein 290
MGI:2384917
Synonyms
b2b1454Clo, b2b1752Clo, Kiaa, MGC:7859, Nphp6
Feature Type
protein coding gene
Genetic Map
Chromosome 10
51.48 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr10:100488289-100573655 bp, + strand
From Ensembl annotation of GRCm38

  85367 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:77213  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

HCOP human homology predictions: CEP290
Gene Tree: Cep290

Human
homologs
CEP290, centrosomal protein 290kDa
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 80184
neXtProt AC: NX_O15078

Human Synonyms: 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, rd16, SLSN6

Human Chr (Location): 12q21.32; chr12:88049013-88142216 (-)  GRCh38.p2

Disease Associations: (5) Diseases Associated with Human CEP290

Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Chemically induced (ENU)(2) Gene trapped(3) Spontaneous(1) Targeted(4)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mutant mice display mislocalization of ciliary and phototransduction proteins resulting in early-onset retinal degeneration. Heterotaxy with transposition of the great arteries (TGA), atrioventricular septal defect (AVSD), left bronchial isomerism, and hypoplastic spleen is also seen.
 
Human Diseases Modeled in Mice Using Cep290 (3)    Mutations Annotated to Human Diseases (3)    Phenotype Images(24)
Interactions
Cep290 interacts with 163 markers (Mir7-2, Mir7b, Mir18, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (39 annotations)
Process cell projection organization, cilium assembly, ...
Component cell projection, centriolar satellite, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (2 records)
cDNA source data(6)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase cep290 ; ZFIN cep290    NEW 
Molecular
reagents
All nucleic(7) cDNA(6) Primer pair(1)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000019971 (Evidence)
Entrez Gene 216274 (Evidence)
DFCI TC1621310, TC1591146, TC1586344
NIA Mouse Gene Index U011964
Consensus CDS Project CCDS48685.1
International Mouse Phenotyping Consortium Status Cep290
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000019971 Ensembl Gene Model | MGI Sequence Detail 85367 C57BL/6J ±  kb
transcript ENSMUST00000164751 Ensembl | MGI Sequence Detail 8006 Not Applicable 
polypeptide ENSMUSP00000130899 Ensembl | MGI Sequence Detail 2479 Not Applicable 

For the selected sequences
All sequences(24) RefSeq(8) UniProt(3)
Polymorphisms
SNPs within 2kb(874 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026201 Centrosomal protein of 290kDa
Protein Ontology PR:000005349 centrosomal protein of 290 kDa
References
(Earliest) J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
(Latest) J:215050 Boye SE, et al., Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy. PLoS One. 2014;9(3):e92928
All references(52)
Disease annotation references (7)
Other
accession IDs
MGI:5437065, MGI:5438053

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory