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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
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:100487548-100573665 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 51.48 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    875 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2384917
protein coding gene Chr10:100487548-100574840 (.)
129S1/SvImJ MGP_129S1SvImJ_G0017691
protein coding gene Chr10:102353271-102443131 (+)
A/J MGP_AJ_G0017670
protein coding gene Chr10:98640306-98723442 (+)
AKR/J MGP_AKRJ_G0017632
protein coding gene Chr10:101464863-101549368 (+)
BALB/cJ MGP_BALBcJ_G0017634
protein coding gene Chr10:98946713-99029552 (+)
C3H/HeJ MGP_C3HHeJ_G0017459
protein coding gene Chr10:101491556-101576427 (+)
C57BL/6NJ MGP_C57BL6NJ_G0018091
protein coding gene Chr10:105926496-106017979 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015770
protein coding gene Chr10:94023242-94106427 (+)
CAST/EiJ MGP_CASTEiJ_G0017020
protein coding gene Chr10:101535204-101623674 (+)
CBA/J MGP_CBAJ_G0017428
protein coding gene Chr10:110008359-110089130 (+)
DBA/2J MGP_DBA2J_G0017533
protein coding gene Chr10:97725888-97810567 (+)
FVB/NJ MGP_FVBNJ_G0017527
protein coding gene Chr10:96926934-97008541 (+)
LP/J MGP_LPJ_G0017607
protein coding gene Chr10:102970846-103057313 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017557
protein coding gene Chr10:111297497-111390809 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0018129
protein coding gene Chr10:101438268-101523631 (+)
PWK/PhJ MGP_PWKPhJ_G0016802
protein coding gene Chr10:97796622-97882661 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016592
protein coding gene Chr10:100216297-100298204 (+)
WSB/EiJ MGP_WSBEiJ_G0017080
protein coding gene Chr10:101421798-101507903 (+)



Homology
more
  • Human Ortholog
    CEP290, centrosomal protein 290
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CEP290, centrosomal protein 290
    Orthology source: HGNC, HomoloGene
  • 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
    33 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 population 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
less
  • 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
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
less
  • All nucleic 8
    cDNA 7
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:5437065, MGI:5438053
References
more
  • Summaries
    All 70
    Developmental Gene Expression 3
    Diseases 6
    Gene Ontology 19
    Phenotypes 33
  • Earliest
    J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
  • Latest
    J:264617 Dharmat R, et al., SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium. J Cell Biol. 2018 Aug 6;217(8):2851-2865

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
12/04/2018
MGI 6.13
The Jackson Laboratory