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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
Location & Maps
more
  • Sequence Map
    Chr10:100488289-100573655 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      85367 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: HGNC, HomoloGene
  • Synonyms
    3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, rd16, SLSN6
  • Links
    NCBI Gene ID: 80184
    neXtProt AC: NX_O15078

  • Chr Location
    12q21.32; chr12:88049013-88142216 (-)  GRCh38.p2

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

Human Disease Mouse Models
       Joubert Syndrome 5; JBTS5   OMIM: 610188 View 2 models
Leber Congenital Amaurosis 10; LCA10   OMIM: 611755 View 3 models
       Polycystic Kidney Disease 1; PKD1   OMIM: 173900 View 1 model
       Bardet-Biedl Syndrome 14; BBS14   OMIM: 615991
Meckel Syndrome, Type 4; MKS4   OMIM: 611134
Senior-Loken Syndrome 6; SLSN6   OMIM: 610189
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    9 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    56 phenotypes from 6 alleles in 9 genetic backgrounds
    3 phenotypes from multigenic genotypes
    27 images
    29 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.
  • All Mutations and Alleles
    12
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    1
  • Gene trapped
    3
  • Spontaneous
    1
  • Targeted
    5
  • Genomic Mutations
    1 involving Cep290
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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 ENSMUSG00000019971 Ensembl Gene Model | MGI Sequence Detail 85367 C57BL/6J ±  kb
transcript ENSMUST00000164751 Ensembl | MGI Sequence Detail 8006 Not Applicable  
polypeptide ENSMUSP00000130899 Ensembl | MGI Sequence Detail 2479 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    875 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000005349 centrosomal protein of 290 kDa
  • InterPro Domains
    IPR026201 Centrosomal protein of 290kDa
    IPR032321 Centrosomal protein of 290kDa, coiled-coil region
Molecular
Reagents
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  • All nucleic 7
    cDNA 6
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:5437065, MGI:5438053
References
more
  • Summaries
    All 56
    Developmental Gene Expression 2
    Diseases 9
    Gene Ontology 16
    Phenotypes 29
  • 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:231949 San Agustin JT, et al., Genetic link between renal birth defects and congenital heart disease. Nat Commun. 2016;7:11103

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory