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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:100323410-100409527 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 51.48 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2358 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 Chr10:100323410-100410702 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CEP290, centrosomal protein 290
  • 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; chr12:88049016-88142099 (-)  GRCh38
Human Diseases
more
  • Diseases
    4 with Cep290 mouse models; 6 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
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
less
  • Phenotype Summary
    66 phenotypes from 6 alleles in 10 genetic backgrounds
    3 phenotypes from multigenic genotypes
    27 images
    57 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    68
  • GO References
    27
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    7
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 216274 NCBI Gene Model | MGI Sequence Detail 86118 C57BL/6J ±  kb
    transcript NM_001400997 RefSeq | MGI Sequence Detail 9040 ZRU/MplStud  
    polypeptide Q6A078 UniProt | EBI | MGI Sequence Detail 2472 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000005349 centrosomal protein of 290 kDa
      (term hierarchy)
    • InterPro Domains
      IPR026201 Centrosomal protein of 290kDa
      IPR032321 Centrosomal protein of 290kDa, coiled-coil region
    • GlyGen
      Q6A078 1 site, 1 O-linked glycan (1 site)
    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 100
      Developmental Gene Expression 3
      Diseases 6
      Gene Ontology 27
      Phenotypes 57
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    11/19/2024
    MGI 6.24     		The Jackson Laboratory