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Cep290
Gene Detail
 Symbol
Name
ID
Cep290
centrosomal protein 290
MGI:2384917
Synonyms b2b1454Clo, b2b1752Clo, 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 NCBI 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

Gene Tree: Cep290

Human
homologs
Human Homolog CEP290, centrosomal protein 290kDa
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
Disease Associations  (5) Diseases Associated with Human CEP290
Alleles
and
phenotypes
All alleles(8) : Targeted(2) Gene trapped(3) Spontaneous(1) Chemically induced(2)
 
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 Using Mouse Cep290 (2)    Alleles Annotated to Human Diseases(2)    Phenotype Images(24)
Gene Ontology
(GO)
classifications
All GO classifications: (25 annotations)
Process cell projection organization, cilium assembly, ...
Component cell projection, centrosome, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (2 records)
cDNA source data(6)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(6) cDNA(6)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000019971 (Evidence)
Entrez Gene216274 (Evidence)
DFCITC1586344, TC1591146, TC1621310
NIA Mouse Gene IndexU011964
Consensus CDS ProjectCCDS48685.1
International Mouse Knockout Project StatusCep290
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 216274 NCBI Gene Model | MGI Sequence Detail 85367 C57BL/6J ±  kb
transcript NM_146009 RefSeq | MGI Sequence Detail 8006 Not Specified 
polypeptide Q6A078 UniProt | EBI | MGI Sequence Detail 2472 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
Graphical View of Protein Domain Structure
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:203124 Zhang Y, et al., BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Hum Mol Genet. 2014 Jan 1;23(1):40-51
All references(47)
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
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory