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CEP89 Gene

protein-coding   GIFtS: 46
GCID: GC19M033370

Centrosomal Protein 89kDa

(Previous name: coiled-coil domain containing 123)
(Previous symbol: CCDC123)
  See CEP89-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)
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Aliases
Centrosomal Protein 89kDa1 2     Coiled-Coil Domain-Containing Protein 123, Mitochondrial2
CCDC1231 2 3 5     Cep1233
Coiled-Coil Domain Containing 1231 2     Cep893
Centrosomal Protein 1232 3     Coiled-Coil Domain-Containing Protein 1233
CEP1232 5     FLJ146405
Centrosomal Protein Of 89 KDa2     

External Ids:    HGNC: 259071   Entrez Gene: 849022   Ensembl: ENSG000001212897   OMIM: 6154705   UniProtKB: Q96ST83   

Export aliases for CEP89 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CEP89 Gene:
CEP89 (centrosomal protein 89kDa) is a protein-coding gene. Diseases associated with CEP89 include retinitis pigmentosa 2, and cytochrome-c oxidase deficiency disease.

UniProtKB/Swiss-Prot: CEP89_HUMAN, Q96ST8
Function: Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex
IV activity




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CEP89
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCEP89 promoter sequence
   Search Chromatin IP Primers for CEP89

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CEP89


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

Entrez Gene cytogenetic band: 19q13.11   Ensembl cytogenetic band:  19q13.11   HGNC cytogenetic band: 19q13.11

CEP89 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CEP89 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M033370:  view genomic region     (about GC identifiers)

Start:
33,369,902 bp from pter      End:
33,462,897 bp from pter
Size:
92,996 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CEP89_HUMAN, Q96ST8 (See protein sequence)
Recommended Name: Centrosomal protein of 89 kDa  
Size: 783 amino acids; 89590 Da
Secondary accessions: B9EGA6 Q8N5J8
Alternative splicing: 3 isoforms:  Q96ST8-1   Q96ST8-2   Q96ST8-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CEP89: NX_Q96ST8

Explore proteomics data for CEP89 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys682, Lys700
  • Modification sites at PhosphoSitePlus

  • See CEP89 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_116205.3  
    ENSEMBL proteins: 
     ENSP00000306105   ENSP00000467544   ENSP00000465141   ENSP00000466442   ENSP00000467839  

    CEP89 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CEP89

     
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    antibodies-online proteins for CEP89 (2 products) 

     
    antibodies-online peptides for CEP89

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    antibodies-online antibodies for CEP89 (13 products) 

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    antibodies-online kits for CEP89 (3 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q96ST8


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CEP89_HUMAN, Q96ST8
    Function: Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex
    IV activity

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with CEP89           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CEP89
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CEP89_HUMAN, Q96ST8: Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.
    Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome,
    centriole. Mitochondrion intermembrane space. Note=Localizes to the distal appendage region of the centriole,
    which anchors the mother centriole to the plasma membrane

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000922spindle pole IDA--
    GO:0005737cytoplasm IDA--
    GO:0005758mitochondrial intermembrane space IEA--
    GO:0005813centrosome IDA--
    GO:0005814centriole IDA--

    Find genes that share ontologies with CEP89           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CEP89
    Interactions:

        Search GeneGlobe Interaction Network for CEP89

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for CEP89 (Q96ST83 ENSP000003061054) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSPC1Q8WXF13I2D: score=3 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042384cilium assembly IMP--

    Find genes that share ontologies with CEP89           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CEP89



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CEP89 gene: 
    NM_032816.3  

    Unigene Cluster for CEP89:

    Centrosomal protein 89kDa
    Hs.599703  [show with all ESTs]
    Unigene Representative Sequence: AK001375
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000305768(uc002ntx.3 uc002nty.3 uc010edg.3 uc002nua.3 uc002nub.1 uc002nuc.1)
    ENST00000591698 ENST00000586984 ENST00000590597 ENST00000593276 ENST00000591205
    ENST00000591863 ENST00000592401
    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CEP89
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    Primer
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    Additional mRNA sequence: 

    AK001375.1 AK023102.1 AK027546.1 AL832158.1 BC012783.2 BC020195.1 BC029978.1 BC032307.1 
    BC136328.1 

    7 DOTS entries:

    DT.92064670  DT.40249849  DT.91755699  DT.100020620  DT.91741312  DT.121504931  DT.100749740 

    Selected AceView cDNA sequences (see all 90):

    BX282732 CN483426 CA427382 BU628988 AW732254 CR591015 AA436095 AA553761 
    CR593458 BE393029 AW162358 AU130698 AW163431 BU621560 BU196203 BI764104 
    NM_032816 BC032307 BM704296 BU180955 AL832158 AL535372 BM671502 BX453507 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CEP89    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
    SP1:                                                                          -                                                               
    SP2:                                            -     -                                                                                       
    SP3:                                            -     -                       -                                                               
    SP4:                                                                                                                                          


    ECgene alternative splicing isoforms for CEP89

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CEP89 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGCAGCCG
    CEP89 Expression
    About this image

    CEP89 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CEP89 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.599703
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    In Situ
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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CEP89 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cep891 , 5 coiled-coil domain containing 1235
    centrosomal protein 891
    75.87(n)1
    70.45(a)1
      7 (21.37 cM)5
    721401  NM_028120.21  NP_082396.11 
     353970355 
    chicken
    (Gallus gallus)
    Aves CEP891 centrosomal protein 89kDa 63.75(n)
    55.98(a)
      415769  XM_414131.4  XP_414131.1 
    lizard
    (Anolis carolinensis)
    Reptilia CEP896
    centrosomal protein 89kDa
    54(a)
    1 ↔ 1
    GL343483.1(72382-102208)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cep891 centrosomal protein 89kDa 58.21(n)
    49.8(a)
      100494656  XM_004913555.1  XP_004913612.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc636482 hypothetical protein MGC63648 73.02(n)   393852  BC063747.1 


    ENSEMBL Gene Tree for CEP89 (if available)
    TreeFam Gene Tree for CEP89 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CEP89 gene
    1 SIMAP similar gene for CEP89 using alignment to 4 protein entries:     CEP89_HUMAN (see all proteins):
    CCDC123

    Find genes that share paralogs with CEP89           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CEP89 (see all 2114)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs719769671,2
    C--29955662(+) AAAAA-/AATCATG 1 -- int10--------
    rs1176301161,2
    F--33369461(+) GGCAGG/ACCTGC 1 -- ds50011Minor allele frequency- A:0.01NA 120
    rs1873428131,2
    --33369475(+) GCAGGA/CCACCT 1 -- ds50010--------
    rs1909207921,2
    --33369492(+) CAGAGC/GAGTGG 1 -- ds50010--------
    rs779761961,2
    C--33369588(+) AGCACA/GATGGG 1 -- ds50010--------
    rs798749751,2
    C--33369589(+) GCACAA/TTGGGC 1 -- ds50010--------
    rs116719661,2
    C,F,H--33369611(+) GCTCAC/AACGTG 1 -- ds50018Minor allele frequency- A:0.08NS EA NA 650
    rs7466411,2
    C,F,A--33369655(+) GACAGA/CTTGAG 1 -- ds50017Minor allele frequency- C:0.32NA CSA WA EA 365
    rs1806902031,2
    --33369739(+) CCTGAC/GAGTGC 1 -- ds50010--------
    rs20772011,2
    --33369884(+) aaaaaA/Ttaaaa 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for CEP89 (33369902 - 33462897 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CEP89:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv516922CNV Loss19592680
    esv26692CNV Loss19812545
    esv24841CNV Loss19812545
    nsv911576CNV Loss21882294
    nsv911577CNV Loss21882294
    nsv833807CNV Loss17160897
    nsv510473CNV Loss20534489
    nsv911578CNV Gain21882294

    Human Gene Mutation Database (HGMD): CEP89
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CEP89
    DNA2.0 Custom Variant and Variant Library Synthesis for CEP89

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 615470    OMIM disorders: --

    UniProtKB/Swiss-Prot: CEP89_HUMAN, Q96ST8
  • Note=Homozygous deletion comprising CEP89 and SLC7A9 genes has been reported in a patient with isolated
    complex IV deficiency, intellectual disability and multisystemic problems that include cystinuria, cataract,
    broad based walking pattern and deafness (PubMed:23575228)

  • 2 diseases for CEP89:    
    About MalaCards
    retinitis pigmentosa 2    cytochrome-c oxidase deficiency disease


    Find genes that share disorders with CEP89           About GenesLikeMe


    Export disorders for CEP89 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)
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    PubMed articles for CEP89 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with CEP89)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CEP89 is required for mitochondrial metabolism and neuronal function in man and fly. (PubMed id 23575228)1, 2 van Bon B.W.... Schenck A. (Hum. Mol. Genet. 2013)
    2. Human-specific nonsense mutations identified by genome sequence comparisons. (PubMed id 16395595)1, 3 Hahn Y. and Lee B. (Hum. Genet. 2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Centriole distal appendages promote membrane docking, leading to cilia initiation. (PubMed id 23348840)2 Tanos B.E....Tsou M.F. (Genes Dev. 2013)
    5. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    6. Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. (PubMed id 21399614)2 Jakobsen L.... Andersen J.S. (EMBO J. 2011)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. Assessing the localization of centrosomal proteins by PALM/STORM nanoscopy. (PubMed id 21976302)2 Sillibourne J.E.... Bornens M. (Cytoskeleton 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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)
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    Entrez Gene: 84902 HGNC: 25907 AceView: FLJ14640 Ensembl:ENSG00000121289 euGenes: HUgn84902
    ECgene: CEP89 H-InvDB: CEP89

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CEP89 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CEP89 gene:
    Search GeneIP for patents involving CEP89

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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