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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CEP290 Gene

protein-coding   GIFtS: 58
GCID: GC12M088442

Centrosomal Protein 290kDa

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Centrosomal Protein 290kDa1 2     Type 41
Cancer/Testis Antigen 871 2 3     3H11Ag2
BBS142 3 5     MKS42
Tumor Antigen Se2-22 3     POC32
CT872 3     Centrosomal Protein Of 290 KDa2
NPHP62 3     CTCL Tumor Antigen Se2-22
Bardet-Biedl Syndrome 14 Protein2 3     Meckel Syndrome, Type 42
JBTS52 5     Monoclonal Antibody 3H11 Antigen2
LCA102 5     nephrocytsin-62
SLSN62 5     POC3 Centriolar Protein Homolog2
KIAA03733 5     Prostate Cancer Antigen T212
Joubert Syndrome 51     rd162
Meckel Syndrome1     Cep2903
nephrocystin-61     Nephrocystin-63
POC3 Centriolar Protein Homolog (Chlamydomonas)1     3H11AG5

External Ids:    HGNC: 290211   Entrez Gene: 801842   Ensembl: ENSG000001987077   OMIM: 6101425   UniProtKB: O150783   

Export aliases for CEP290 gene to outside databases

Previous GC identifers: GC12M086966 GC12M085509


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CEP290 Gene:
This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome
segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The
protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation,
phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert
syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several
forms of cancer. (provided by RefSeq, Jul 2008)

GeneCards Summary for CEP290 Gene: 
CEP290 (centrosomal protein 290kDa) is a protein-coding gene. Diseases associated with CEP290 include cep290-related bardet-biedl syndrome, and leber congenital amaurosis 10, and among its related super-pathways are G2/M Transition and Cell Cycle, Mitotic. GO annotations related to this gene include protein binding and microtubule minus-end binding.

UniProtKB/Swiss-Prot: CE290_HUMAN, O15078
Function: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate
ciliary membrane composition (By similarity). Activates ATF4-mediated transcription. Required for the correct
localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary
transport processes

Gene Wiki entry for CEP290 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CEP290 gene promoter:
         CUTL1   Ik-3   NF-AT   NF-AT4   E2F-1   E2F   NF-AT2   NF-AT3   Sox9   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCEP290 promoter sequence
   Search SABiosciences Chromatin IP Primers for CEP290

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CEP290


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q21.32   Ensembl cytogenetic band:  12q21.32   HGNC cytogenetic band: 12q21.33

CEP290 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CEP290 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M088442:  view genomic region     (about GC identifiers)

Start:
88,442,790 bp from pter      End:
88,535,993 bp from pter
Size:
93,204 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CE290_HUMAN, O15078 (See protein sequence)
Recommended Name: Centrosomal protein of 290 kDa  
Size: 2479 amino acids; 290386 Da
Subunit: Part of the tectonic-like complex (also named B9 complex) (By similarity). Interacts with ATF4 via its
N-terminal region. Part of selected centrosomal and microtubule-associated protein complexes. Interacts with
IQCB1. Interacts with ZNF423. Interacts with FAM161A. Interacts with RPGR (By similarity). Interacts with
KIAA1009/CEP162
Subcellular location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus. Cell
projection, cilium. Cytoplasm, cytoskeleton, cilium basal body (By similarity). Note=Connecting cilium of
photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells. Localizes at the transition
zone, a region between the basal body and the ciliary axoneme (By similarity)
Sequence caution: Sequence=AAG34904.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AK023677; Type=Frameshift; Positions=556; Sequence=BAA20828.2; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=BAB15196.1; Type=Miscellaneous discrepancy;
Note=Contaminating sequence. Potential poly-A sequence;
Secondary accessions: Q1PSK5 Q66GS8 Q9H2G6 Q9H6Q7 Q9H8I0
Alternative splicing: 2 isoforms:  O15078-1   O15078-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CEP290: NX_O15078

Explore proteomics data for CEP290 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O15078

  • CEP290 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CEP290 Protein Expression
    REFSEQ proteins: NP_079390.3  
    ENSEMBL proteins: 
     ENSP00000446905   ENSP00000448012   ENSP00000473863   ENSP00000448573   ENSP00000447623  
     ENSP00000447527   ENSP00000308021   ENSP00000380938  
    Reactome Protein details: O15078
    Human Recombinant Protein Products for CEP290: 
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    Cloud-Clone Corp. Proteins for CEP290 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000930colocalizes with gamma-tubulin complex IDA16682973
    GO:0005634nucleus IDA16682973
    GO:0005737cytoplasm IDA14654843
    GO:0005813centrosome IDA14654843
    GO:0005829cytosol TAS--

    CEP290 for ontologies           About GeneDecksing



    CEP290 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for CEP290


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR026201 Cep290

    Graphical View of Domain Structure for InterPro Entry O15078

    ProtoNet protein and cluster: O15078


    CEP290 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CE290_HUMAN, O15078
    Function: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate
    ciliary membrane composition (By similarity). Activates ATF4-mediated transcription. Required for the correct
    localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary
    transport processes

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16682973
    GO:0051011NOT microtubule minus-end binding IDA16682973
         
    CEP290 for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Cep290):
     cardiovascular system  craniofacial  growth/size  hematopoietic system  immune system 
     nervous system  pigmentation  renal/urinary system  reproductive system  skeleton 
     vision/eye 

    CEP290 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CEP290: Cep290tm1.1Jgg Cep290tm1Jgg

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CEP290 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CEP290

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CEP290 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CEP290 

    miRNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP290


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CEP290 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Recruitment of mitotic centrosome proteins and complexes
    Recruitment of mitotic centrosome proteins and complexes0.83
    Mitotic G2-G2/M phases0.81
    Centrosome maturation0.83
    Loss of Nlp from mitotic centrosomes0.78
    G2/M Transition0.83
    Loss of proteins required for interphase microtubule organization,from the centrosome0.78
    2Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/8        Reactome Pathways for CEP290 (see all 8)
        Centrosome maturation
    Cell Cycle
    Recruitment of mitotic centrosome proteins and complexes
    G2/M Transition
    Loss of proteins required for interphase microtubule organization,from the centrosome



    CEP290 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CEP290

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/82 Interacting proteins for CEP290 (O150781, 2, 3 ENSP000003080214) via UniProtKB, MINT, STRING, and/or I2D (see all 82)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CEP76Q8TAP62, ENSP000002621274MINT-8396578 MINT-8396594 MINT-8396494 MINT-8396609 STRING: ENSP00000262127
    CEP97Q8IW352, ENSP000003425104MINT-8396578 MINT-8396594 MINT-8396494 MINT-8396609 STRING: ENSP00000342510
    NEURL4Q96JN82, ENSP000003823904MINT-8396578 MINT-8396594 MINT-8396494 STRING: ENSP00000382390
    CCP110O433032MINT-8396578 MINT-8396594 MINT-8396494 MINT-8396609
    MAPK10P537793, ENSP000003521574I2D: score=2 STRING: ENSP00000352157
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0007163establishment or maintenance of cell polarity IEA--
    GO:0015031protein transport ISS--
    GO:0030814regulation of cAMP metabolic process IEA--

    CEP290 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CEP290 (CE290)

    Search CenterWatch for drugs/clinical trials and news about CEP290 / CE290

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CEP290 gene: 
    NM_025114.3  

    Unigene Cluster for CEP290:

    Centrosomal protein 290kDa
    Hs.150444  [show with all ESTs]
    Unigene Representative Sequence: NM_025114
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000547691(uc001taq.3) ENST00000552810(uc001tar.3) ENST00000604024
    ENST00000547926(uc009zsl.1) ENST00000550962 ENST00000552770 ENST00000309041(uc001tat.3)
    ENST00000397838
    miRNA
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    GenScript: all cDNA clones in your preferred vector: CEP290 (NM_025114)
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CEP290

    Additional mRNA sequence: 

    AB002371.1 AF273044.1 AF403227.1 AK023677.1 AK025632.1 AY590151.1 BC008641.1 BC043398.1 
    BX537653.1 DQ109808.1 

    8 DOTS entries:

    DT.95185699  DT.212011  DT.75158243  DT.97773774  DT.100028108  DT.95301625  DT.97766373  DT.208497 

    24/105 AceView cDNA sequences (see all 105):

    CA449234 BU182003 BM703076 AU126944 AI350623 AA805758 BX494116 AL049146 
    AF273044 BC008641 BM693517 AL079690 AU117016 AU139571 CB133903 AA251224 
    AW770251 CB139803 BC043398 AK025632 BQ186123 BU676074 BU162108 BG113046 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CEP290 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAAAGGAGT
    CEP290 Expression
    About this image


    See CEP290 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CEP290

    SOURCE GeneReport for Unigene cluster: Hs.150444

    UniProtKB/Swiss-Prot: CE290_HUMAN, O15078
    Tissue specificity: Ubiquitous. Expressed strongly in placenta and weakly in brain

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP290

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CEP290 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cep2901 , 5 centrosomal protein 2901, 5 86.04(n)1
    87.45(a)1
      10 (51.48 cM)5
    2162741  NM_146009.21  NP_666121.21 
     1004882895 
    chicken
    (Gallus gallus)
    Aves CEP2901 centrosomal protein 290kDa 73.99(n)
    70.38(a)
      417887  XM_416130.3  XP_416130.2 
    lizard
    (Anolis carolinensis)
    Reptilia CEP2906
    CEP2906
    Uncharacterized protein
    8(a)
    71(a)
    1 ↔ 1
    possible ortholog
    AAWZ02035066(30842-42749)
    5(33473687-33532856)
    zebrafish
    (Danio rerio)
    Actinopterygii cep2901 centrosomal protein 290 59.96(n)
    58.54(a)
      560588  NM_001168267.1  NP_001161739.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG138896
    --
    8(a)
    possible ortholog
    3L(843926-851080)
    worm
    (Caenorhabditis elegans)
    Secernentea eea-16
    F59A2.66
    Protein F59A2.6
    9(a)
    11(a)
    possible ortholog
    possible ortholog
    V(13491068-13497372)
    III(3415552-3424743)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes USO16
    Essential protein involved in the vesicle-mediated...
    11(a)
    1 → many
    IV(345665-351037)


    ENSEMBL Gene Tree for CEP290 (if available)
    TreeFam Gene Tree for CEP290 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CEP290 gene

    CEP290 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CEP290
    PGOHUM00000249425


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1666 SNPs in CEP290 are shown (see all 1666)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0681684
    Joubert syndrome 5 (JBTS5)4--see VAR_0681682 E K mis40--------
    VAR_0283564
    Senior-Loken syndrome 6 (SLSN6)4--see VAR_0283562 W C mis40--------
    rs1378528321,2
    Cpathogenic188318726(-) TAGAGG/TGAAAG 2 G * stg10--------
    rs2818651921,2
    Cpathogenic188342642(-) TGTGAA/GTATCT 1 -- int10--------
    rs626352881,2
    Cpathogenic188382744(-) AACTGG/TAAAGA 2 W C mis10--------
    rs752208081,2
    C,Funtested188344459(+) GAAAAT/CGGCCA 2 /I /V mis11Minor allele frequency- C:0.03WA 118
    rs111047381,2,4
    C,F,Huntested188348527(+) TGTTTT/CAGATT 2 /K /E mis119Minor allele frequency- C:0.10NS EA NA CSA EU 2812
    rs454659961,2
    C,Funtested188353313(-) TAGGCT/CATAGA 2 /A syn12Minor allele frequency- C:0.19NA EU 690
    rs797056981,2,4
    C,Funtested188355938(+) CAGGAT/CCTTTC 2 /D /G mis13Minor allele frequency- C:0.05NA EA EU 833
    VAR_0669974
    ----see VAR_0669972 R C mis40--------

    HapMap Linkage Disequilibrium report for CEP290 (88442790 - 88535993 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CEP290:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2157492CNV Deletion18987734
    esv1473323CNV Insertion17803354
    nsv807CNV Loss18451855
    nsv899418CNV Gain21882294


    Human Gene Mutation Database (HGMD): CEP290

    Locus Specific Mutation Databases (LSDB): CEP290
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CEP290
    DNA2.0 Custom Variant and Variant Library Synthesis for CEP290

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610142   
    OMIM disorders: 610188  610189  611755  611134  209900  
    UniProtKB/Swiss-Prot: CE290_HUMAN, O15078
  • Joubert syndrome 5 (JBTS5) [MIM:610188]: A disorder presenting with cerebellar ataxia, oculomotor
    apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is
    characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles,
    and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar
    tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 5
    shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy
    and/or progressive renal failure characterized by nephronophthisis. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Senior-Loken syndrome 6 (SLSN6) [MIM:610189]: A renal-retinal disorder characterized by progressive
    wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease,
    and progressive eye disease. Typically this disorder becomes apparent during the first year of life. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Leber congenital amaurosis 10 (LCA10) [MIM:611755]: A severe dystrophy of the retina, typically becoming
    evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish
    or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Meckel syndrome 4 (MKS4) [MIM:611134]: A disorder characterized by a combination of renal cysts and
    variably associated features including developmental anomalies of the central nervous system (typically
    encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Note=Antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not
    in the healthy control population
  • Bardet-Biedl syndrome 14 (BBS14) [MIM:209900]: A syndrome characterized by usually severe pigmentary
    retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation.
    Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome
    inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus)
    may be required for clinical manifestation of some forms of the disease. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/49 diseases for CEP290 (see all 49):    About MalaCards
    cep290-related bardet-biedl syndrome    leber congenital amaurosis 10    meckel syndrome type 4    cep290-related meckel syndrome
    cep290-related leber congenital amaurosis    cep290-related joubert syndrome    joubert syndrome 2    senior-loken syndrome 1
    senior-loken syndrome 6    joubert syndrome    aipl1-related leber congenital amaurosis    senior-loken syndrome
    joubert syndrome and related disorders    orofaciodigital syndrome    nephronophthisis    meckel syndrome
    encephalocele    was-related disorders    encephaloceles    bardet-biedl syndrome

    9 diseases from the University of Copenhagen DISEASES database for CEP290:
    Leber congenital amaurosis     Nephronophthisis     Fundus dystrophy     Bardet-Biedl syndrome
    Seckel syndrome     Polydactyly     Cystic kidney     Retinal degeneration
    Blindness

    CEP290 for disorders           About GeneDecksing

    GeneTests: CEP290
    GeneReviews: CEP290
    Genetic Association Database (GAD): CEP290
    Human Genome Epidemiology (HuGE) Navigator: CEP290 (6 documents)

    Export disorders for CEP290 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CEP290 gene, integrated from 9 sources (see all 66):
    (articles sorted by number of sources associating them with CEP290)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. (PubMed id 16682973)1, 2, 3, 9 Sayer J.A.... Hildebrandt F. (2006)
    2. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. (PubMed id 16909394)1, 2, 9 den Hollander A.I....Cremers F.P.M. (2006)
    3. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. (PubMed id 16682970)1, 2, 9 Valente E.M.... Gleeson J.G. (2006)
    4. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. (PubMed id 22863007)1, 2 Chaki M....Hildebrandt F. (2012)
    5. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. (PubMed id 21565611)1, 2 Sang L.... Jackson P.K. (2011)
    6. Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (2010)
    7. Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. (PubMed id 20683928)1, 2 Coppieters F.... De Baere E. (2010)
    8. Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. (PubMed id 19753312)1, 4 Sundaresan P....Stone E.M. (2009)
    9. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. (PubMed id 18950740)1, 2 Gorden N.T....Doherty D. (2008)
    10. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. (PubMed id 18327255)1, 2 Leitch C.C....Katsanis N. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80184 HGNC: 29021 AceView: Cep290 Ensembl:ENSG00000198707 euGenes: HUgn80184
    ECgene: CEP290 H-InvDB: CEP290

    (According to HUGE)
    About This Section
    HUGE: KIAA0373

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CEP290 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CEP290
    CEP290 Mutation Databasehttp://medgen.ugent.be/cep290base/index.php

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CEP290 gene:
    Search GeneIP for patents involving CEP290

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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