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; chr12:88442790-88535993 (-)  GRCh37.p10
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: (26 annotations)

Process	cell projection organization, cilium assembly, ...
Component	cell projection, cell surface, ...
Function	protein binding

External Resources: FuncBase

Expression

Literature Summary: (2 records)
cDNA source data(26)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(26) cDNA(26)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000019971 (Evidence)
Entrez Gene	216274 (Evidence)
UniGene	229114
DFCI	TC1586344, TC1591146, TC1621310
NIA Mouse Gene Index	U011964
Consensus CDS Project	CCDS48685.1
International Mouse Knockout Project Status	Cep290

Sequences

Length	Strain/Species
genomic	216274	NCBI Gene Model | MGI Sequence Detail	85367	C57BL/6J
transcript	NM_146009	RefSeq | MGI Sequence Detail	8006	Not Specified
polypeptide	Q6A078	UniProt | EBI | MGI Sequence Detail	2472	Not Applicable

All sequences(18) RefSeq(2) UniProt(3)

Protein-related information

Resource	ID	Description
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:188633 Ghosh AK, et al., 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide. Am J Physiol Renal Physiol. 2012 Oct;303(8):F1225-9
All references(45)

Other accession IDs

MGI:5437065, MGI:5438053