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CNTROB Gene

protein-coding   GIFtS: 53
GCID: GC17P007835

Centrobin, Centrosomal BRCA2 Interacting Protein

  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)
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Aliases
Centrobin, Centrosomal BRCA2 Interacting Protein1 2
centrobin1 2
Centrosomal BRCA2-Interacting Protein2 3
LIP82 3
LYST-Interacting Protein 82 3
LYST-Interacting Protein LIP82

External Ids:    HGNC: 296161   Entrez Gene: 1168402   Ensembl: ENSG000001700377   OMIM: 6114255   UniProtKB: Q8N1373   

Export aliases for CNTROB gene to outside databases

Previous GC identifer: GC17P007777


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CNTROB Gene:
This gene encodes a centrosomal protein that interacts with BRCA2, and is required for centriole duplication and
cytokinesis. Alternatively spliced transcript variants encoding different isoforms have been described for this
gene. (provided by RefSeq, Aug 2011)

GeneCards Summary for CNTROB Gene:
CNTROB (centrobin, centrosomal BRCA2 interacting protein) is a protein-coding gene. Diseases associated with CNTROB include ataxia, and breast cancer. GO annotations related to this gene include protein domain specific binding.

UniProtKB/Swiss-Prot: CNTRB_HUMAN, Q8N137
Function: Required for centriole duplication. Inhibition of centriole duplication leading to defects in
cytokinesis

Gene Wiki entry for CNTROB 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CNTROB gene promoter:
         Elk-1   Pbx1a   Sp1   NCX/Ncx   NF-kappaB   GATA-2   SREBP-1a   ZID   NF-kappaB1   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCNTROB promoter sequence
   Search Chromatin IP Primers for CNTROB

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


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

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P007835:  view genomic region     (about GC identifiers)

Start:
7,835,419 bp from pter      End:
7,853,236 bp from pter
Size:
17,818 bases      Orientation:
plus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CNTRB_HUMAN, Q8N137 (See protein sequence)
Recommended Name: Centrobin  
Size: 903 amino acids; 101253 Da
Subunit: Interacts with LYST
Developmental stage: Preferentially incorporated into the newly assembled daughter centriole during centriole
assembly at the late G1 or early S phase. Remains in the daughter centrioles throughout the cell cycle. At the
next cycle of centriole duplication, its amount on the original daughter centriole eventually decreases
Sequence caution: Sequence=AAG49447.1; Type=Erroneous translation; Note=Wrong choice of frame;
Sequence=AAG49447.1; Type=Frameshift; Positions=609; Sequence=BAC11241.1; Type=Erroneous initiation;
Secondary accessions: A6NHQ1 Q331K3 Q69YV7 Q8NCB8 Q8WXV3 Q96CQ7 Q9C060
Alternative splicing: 5 isoforms:  Q8N137-1   Q8N137-2   Q8N137-3   Q8N137-4   Q8N137-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CNTROB: NX_Q8N137

Explore proteomics data for CNTROB at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys610, Lys761, Lys832
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001032221.1  NP_444279.2  

    ENSEMBL proteins: 
     ENSP00000459246   ENSP00000369614   ENSP00000456335   ENSP00000460583   ENSP00000461000  
     ENSP00000458696   ENSP00000454840   ENSP00000458688   ENSP00000458787   ENSP00000458251  
     ENSP00000369605  

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    (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: Q8N137


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CNTRB_HUMAN, Q8N137
    Function: Required for centriole duplication. Inhibition of centriole duplication leading to defects in
    cytokinesis

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16275750
    GO:0019904protein domain specific binding IPI11984006
         
    CNTROB for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CNTROB:
     Increased HPV18 LCR reporter a 

    Animal Models:
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    hsa-mir-149-5p (MIRT045665)

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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
    CNTRB_HUMAN, Q8N137: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole.
    Note=Centriole-associated, asymmetrically localizes to the daughter centriole
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus3

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--
    GO:0005814centriole IDA16275750

    CNTROB for ontologies           About GeneDecksing


    (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 CNTROB
    Interactions:

        Search GeneGlobe Interaction Network for CNTROB

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5 Interacting proteins for CNTROB (Q8N1372, 3 ENSP000003696144) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APTXQ7Z2E32, 3, ENSP000004008064MINT-2878350 I2D: score=3 STRING: ENSP00000400806
    LYSTQ996983, ENSP000003744434I2D: score=2 STRING: ENSP00000374443
    PXNP490233I2D: score=1 
    NEURL4Q96JN82MINT-8396738
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000910cytokinesis IMP16275750
    GO:0007099centriole replication IMP16275750
    GO:0051299centrosome separation IMP16275750

    CNTROB for ontologies           About GeneDecksing



    (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
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    Browse Tocris compounds for CNTROB (CNTRB)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CNTROB gene (2 alternative transcripts): 
    NM_001037144.5  NM_053051.3  

    Unigene Cluster for CNTROB:

    Centrobin, centrosomal BRCA2 interacting protein
    Hs.348012  [show with all ESTs]
    Unigene Representative Sequence: NM_001037144
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000576538 ENST00000380262(uc002gjp.3) ENST00000563694(uc002gjq.3)
    ENST00000570782 ENST00000570784 ENST00000575408 ENST00000565740(uc002gjr.3)
    ENST00000571540 ENST00000571632 ENST00000576587 ENST00000576922(uc010vum.1)
    ENST00000574430 ENST00000576723 ENST00000573862 ENST00000576536 ENST00000380255

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    Additional mRNA sequence: 

    AF141344.1 AF331638.2 AK293076.1 AK303093.1 AL833907.1 AY160226.1 AY160227.1 BC014055.2 
    BC021134.1 

    16 DOTS entries:

    DT.95180090  DT.86854406  DT.100028963  DT.95174923  DT.95174926  DT.100777902  DT.120903669  DT.95118122 
    DT.95174925  DT.95186263  DT.100777900  DT.100777901  DT.92040942  DT.92433188  DT.95301845  DT.40248058 

    Selected AceView cDNA sequences (see all 188):

    BQ706760 AI376821 BC014055 BQ773018 BG388890 BM127046 BG390883 BU726686 
    BM910758 AI917429 BU844407 BU730127 AL535211 AI768983 BU169117 BQ924030 
    BC021134 CR601905 BQ898258 AI090055 AL137669 AL558225 BM703719 BX097118 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CNTROB (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^
    SP1:                                                                                -                                                                           
    SP2:                                                                                -                                                                           
    SP3:                                                                                -                                                                           
    SP4:                                                                                                                                                            
    SP5:                          -     -                                               -                                                                           

    ExUns: 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20
    SP1:                    -                     
    SP2:                                          
    SP3:                    -                     
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for CNTROB

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


    CNTROB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    CNTROB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CNTROB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.348012

    UniProtKB/Swiss-Prot: CNTRB_HUMAN, Q8N137
    Tissue specificity: Widely expressed (at protein level). Highly expressed in testis. Also expressed in spleen,
    thymus, prostate, small intestine, colon and peripheral blood leukocytes

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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 CNTROB gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cntrob1 , 5 centrobin, centrosomal BRCA2 interacting protein1, 5 84.63(n)1
    85.76(a)1
      11 (42.51 cM)5
    2168461  NM_172560.31  NP_766148.21 
     692994875 
    lizard
    (Anolis carolinensis)
    Reptilia CNTROB6
    centrobin, centrosomal BRCA2 interacting protein
    44(a)
    1 ↔ 1
    GL343400.1(957550-978700)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 CNTROB (see all 566)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs356561981,2
    C--7739108(+) TGTGT-/A/TAAGGA 2 -- int10--------
    rs355966361,2
    C--7745147(+) AAAAA-/GAAAGA 2 -- int10--------
    rs1828362591,2
    --7822433(+) CCCACA/GGTTGA 2 -- us2k10--------
    rs1382015671,2
    C--7822477(+) CAGGGA/GGTGTG 2 -- us2k10--------
    rs732357041,2
    C,F--7822564(+) GTGACA/TAAAAG 2 -- us2k13Minor allele frequency- T:0.10WA CSA 121
    rs1870728021,2
    --7822586(+) CTTCTC/TGCAGC 2 -- us2k10--------
    rs1900079261,2
    --7822591(+) CGCAGC/TATTAG 2 -- us2k10--------
    rs2013585621,2
    --7822780(+) CAGACA/GTGAAT 2 -- us2k10--------
    rs11288141,2
    C--7822895(-) TGGGCC/AAAACT 2 -- us2k12Minor allele frequency- A:0.00NA 4
    rs1137144951,2
    C--7822943(+) CAGCTA/C/G/
            
    TGGAA
    2 -- us2k11CSA 1

    HapMap Linkage Disequilibrium report for CNTROB (7835419 - 7853236 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CNTROB:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670156CNV Deletion23128226
    nsv457660CNV Loss19166990

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

    (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: 611425    OMIM disorders: --

    3 diseases for CNTROB:    
    About MalaCards
    ataxia    breast cancer    prostatitis


    CNTROB for disorders           About GeneDecksing

    Genetic Association Database (GAD): CNTROB
    Human Genome Epidemiology (HuGE) Navigator: CNTROB (1 document)

    Export disorders for CNTROB 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 CNTROB gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with CNTROB)
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    1. Centrobin: a novel daughter centriole-associated protein that is required for centriole duplication. (PubMed id 16275750)1, 2, 3, 9 Zou C.... Gao Q. (J. Cell Biol. 2005)
    2. The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. (PubMed id 11984006)1, 2, 3 Tchernev V.T.... Kingsmore S.F. (Mol. Med. 2002)
    3. Centrosome-related genes, genetic variation, and risk of breast cancer. (PubMed id 20508983)1, 4 Olson J.E....Couch F.J. (Breast Cancer Res. Treat. 2011)
    4. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Inhibition of centriole duplication by centrobin depletion leads to p38-p53 mediated cell-cycle arrest. (PubMed id 20085806)1, 9 Song L....Li J. (Cell. Signal. 2010)
    8. Centrobin regulates the assembly of functional mitotic spindles. (PubMed id 20190801)1, 9 Jeffery J.M....Khanna K.K. (Oncogene 2010)
    9. Characterization of NIP2/centrobin, a novel substrate of Nek2, and its potential role in microtubule stabilization. (PubMed id 17535851)1, 9 Jeong Y....Rhee K. (J. Cell. Sci. 2007)
    10. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 116840 HGNC: 29616 AceView: LIP8 Ensembl:ENSG00000170037 euGenes: HUgn116840
    ECgene: CNTROB H-InvDB: CNTROB

    (According to HUGE)
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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 CNTROB 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 CNTROB gene:
    Search GeneIP for patents involving CNTROB

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



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