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Cep290 Gene Detail
Summary
  • Symbol
    Cep290
  • Name
    centrosomal protein 290
  • Synonyms
    b2b1454Clo, b2b1752Clo, Kiaa, MGC:7859, Nphp6
  • Feature Type
    protein coding gene
  • IDs
    MGI:2384917
    NCBI Gene: 216274
  • Gene Overview
    MyGene.info: CEP290
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr10:100487548-100573665 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      86118 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 51.48 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    CEP290, centrosomal protein 290
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CEP290, centrosomal protein 290
    Orthology source: HomoloGene, HGNC
  • Synonyms
    3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, rd16, SLSN6
  • Links
    NCBI Gene ID: 80184
    neXtProt AC: NX_O15078
    UniProt: O15078

  • Chr Location
    12q21.32; chr12:88049013-88142216 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    4 with Cep290 mouse models; 5 with human CEP290 associations

Human Disease Mouse Models
      
IDs
View 2 models
IDs
View 3 models
      
IDs
View 1 model
IDs
View 2 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    56 phenotypes from 5 alleles in 9 genetic backgrounds
    3 phenotypes from multigenic genotypes
    27 images
    32 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 216274 NCBI Gene Model | MGI Sequence Detail 86118 C57BL/6J ±  kb
transcript NM_146009 RefSeq | MGI Sequence Detail 10203 C57BL/6  
polypeptide Q6A078 UniProt | EBI | MGI Sequence Detail 2472 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    875 from dbSNP Build 142
Protein
Information
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  • UniProt
    4 Sequences
  • InterPro Domains
    IPR026201 Centrosomal protein of 290kDa
    IPR032321 Centrosomal protein of 290kDa, coiled-coil region
Molecular
Reagents
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  • All nucleic 8
    cDNA 7
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
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MGI:5437065, MGI:5438053
References
more
  • Summaries
    All 69
    Developmental Gene Expression 3
    Diseases 6
    Gene Ontology 19
    Phenotypes 32
  • Earliest
    J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
  • Latest
    J:239231 Zhang B, et al., DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle. J Biol Chem. 2017 Jan 27;292(4):1351-1360

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
07/31/2018
MGI 6.12
The Jackson Laboratory