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

CEP120 Gene

protein-coding   GIFtS: 46
GCID: GC05M122708

centrosomal protein 120kDa

(Previous name: coiled-coil domain containing 100 )
(Previous symbol: CCDC100)
 Explore 3 diseases affiliated with
CEP120 via our new
 Human Malady Compendium 
Biological research products
for CEP120
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Centrosomal Protein 120kDa1 2     FLJ360901
CCDC1001 2 3 5     Centrosomal Protein Of 120 KDa2
Coiled-Coil Domain Containing 1001 2     Cep1203
Coiled-Coil Domain-Containing Protein 1002 3     

External Ids:    HGNC: 266901   Entrez Gene: 1532412   Ensembl: ENSG000001689447   OMIM: 6134465   UniProtKB: Q8N9603   

Export aliases for CEP120 gene to outside databases

Previous GC identifer: GC05M117868


(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 CEP120:
This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A
similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of
nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to
result in neurogenic defects. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Oct
2009)

UniProtKB/Swiss-Prot: CE120_HUMAN, Q8N960
Function: Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the
processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper
positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural
progenitors. May play a role in centriole duplication during mitosis (By similarity)

Gene Wiki entry for CEP120


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_034772.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CEP120 gene promoter:
         AML1a   FOXO3   Olf-1   CUTL1   Tal-1beta   E4BP4   AP-2gamma   FOXO3b   FOXO3a   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCEP120 promoter sequence
   Search SABiosciences Chromatin IP Primers for CEP120

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CEP120


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

Entrez Gene cytogenetic band: 5q23.2   Ensembl cytogenetic band:  5q23.2   HGNC cytogenetic band: 5q23.2

CEP120 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CEP120 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M122708:  view genomic region     (about GC identifiers)

Start:
122,680,579 bp from pter      End:
122,759,286 bp from pter
Size:
78,708 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CE120_HUMAN, Q8N960 (See protein sequence)
Recommended Name: Centrosomal protein of 120 kDa  
Size: 986 amino acids; 112640 Da
Subunit: Interacts with TACC2 and TACC3 (By similarity). Interacts with CCDC52 (By similarity)
Subcellular location: Cytoplasm, cytoskeleton, centrosome (By similarity). Note=Regulates the localization of TACC3 to
the centrosome in neural progenitors in vivo (By similarity)
Sequence caution: Sequence=BAC04155.1; Type=Erroneous initiation; Sequence=CAH10561.1; Type=Erroneous initiation;
Secondary accessions: Q6AI52 Q6AW89 Q8IWB5 Q8N9Y0 Q8NDE8
Alternative splicing: 3 isoforms:  Q8N960-1   Q8N960-2   Q8N960-3   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CEP120: NX_Q8N960

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N960

  • CEP120 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001159698.1  NP_694955.2  

    ENSEMBL proteins: 
     ENSP00000303058   ENSP00000422234   ENSP00000422382   ENSP00000422089   ENSP00000421620  
     ENSP00000428303   ENSP00000327504   ENSP00000307419   ENSP00000378819  

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    Uscn Proteins for CEP120

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005813centrosome IDA--


    CEP120 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CEP120 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR022136 DUF3668
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR000008 C2_Ca-dep

    Graphical View of Domain Structure for InterPro Entry Q8N960

    ProtoNet protein and cluster: Q8N960

    UniProtKB/Swiss-Prot: CE120_HUMAN, Q8N960
    Similarity: Belongs to the CEP120 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: CE120_HUMAN, Q8N960
    Function: Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the
    processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper
    positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural
    progenitors. May play a role in centriole duplication during mitosis (By similarity)

    miRNA
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    hsa-miR-548j hsa-let-7d hsa-miR-106a hsa-miR-200a hsa-miR-301a hsa-miR-519a hsa-miR-141 hsa-let-7g
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008022protein C-terminus binding IEA--


    CEP120 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for CEP120:
     Increased G1 DNA content  Increased cell size 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CEP120

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for CEP120 (Q8N9602 ENSP000003030584) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    STAT3ENSP000002646574STRING: ENSP00000264657
    --Q9WMX22MINT-7050039
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization ----
    GO:0008283cell proliferation ----
    GO:0021987cerebral cortex development IEA--
    GO:0022008neurogenesis IEA--
    GO:0022027interkinetic nuclear migration IEA--


    CEP120 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 CEP120
    Search CenterWatch for drugs/clinical trials and news about CEP120 / CE120 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CEP120 gene (2 alternative transcripts): 
    NM_001166226.1  NM_153223.3  

    Unigene Cluster for CEP120:

    Centrosomal protein 120kDa
    Hs.483209  [show with all ESTs]
    Unigene Representative Sequence: NM_153223
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000306467 ENST00000508138(uc011cwq.2) ENST00000510582 ENST00000513565
    ENST00000508442 ENST00000503049 ENST00000515110 ENST00000328236(uc003ktk.3)
    ENST00000306481(uc010jcz.2) ENST00000395431

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    8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate CEP120 (see all 41):
    hsa-miR-548j hsa-let-7d hsa-miR-106a hsa-miR-200a hsa-miR-301a hsa-miR-519a hsa-miR-141 hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidCEP120 3' UTR sequence
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    Additional cDNA sequence: 

    AK093409.1 AK095646.1 AK296999.1 AL833929.1 BC144558.1 BX648687.1 CR627324.1 

    5 DOTS entries:

    DT.442659  DT.91846411  DT.91650668  DT.87015883  DT.95134807 

    24/83 AceView cDNA sequences (see all 83):

    BX648687 BM803745 AA490782 AW188053 AK093409 N62363 NM_153223 AX748108 
    AA283676 AA608634 AA290905 BX280587 AA810982 AA731085 AI684272 BU623019 
    AI369071 AA642303 AA031792 AL833929 AI377653 H99380 BU675505 N44875 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CEP120    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b
    SP1:                                                                                                                                                
    SP2:                                                              -                                                           -                     


    ECgene alternative splicing isoforms for CEP120

    (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

    CEP120 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAAACAGACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CEP120 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CEP120

    SOURCE GeneReport for Unigene cluster: Hs.483209
        SABiosciences Custom PCR Arrays for CEP120
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP120

    (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.

    Orthologs for CEP120 gene from 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cep1201 , 5 centrosomal protein 1201, 5 84.87(n)1
    89.85(a)1
      18 (29.07 cM)5
    2255231  NM_178686.31  NP_848801.21 
     536817245 
    chicken
    (Gallus gallus)
    Aves CEP1201 centrosomal protein 120kDa 74.67(n)
    76.31(a)
      426802  XM_424414.3  XP_424414.3 
    lizard
    (Anolis carolinensis)
    Reptilia CEP1206
    --
    71(a)
    1 ↔ 1
    GL343193.1(12540973-12572739)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.55542 Xenopus laevis transcribed sequences 76.94(n)    BX853747.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cep1201 centrosomal protein 120kDa 60.17(n)
    61.64(a)
      100334628  XM_002663045.2  XP_002663091.2 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    22(a)
    1 ↔ 1
    Group2.7(5734-9486)


    ENSEMBL Gene Tree for CEP120 (if available)
    TreeFam Gene Tree for CEP120 (if available) 

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1404 NCBI SNPs in CEP120 are shown (see all 1404    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1881827441,2
    --122680138(+) ACATGG/TTATTA 2 -- ds50010--------
    rs1809053491,2
    --122680180(+) TGCAGG/TACATG 2 -- ds50010--------
    rs174728321,2
    C,F,H,--122680189(+) TGCCCG/ACATTA 2 -- ds500128Minor allele frequency- A:0.27NA EA NS CSA WA 2982
    rs1443383151,2
    --122680266(+) TAAAAC/TATTTG 2 -- ds50010--------
    rs746580371,2
    C,F,--122680370(+) CAAAAT/CCAGTG 2 -- ds50011Minor allele frequency- C:0.10WA 118
    rs68903761,2
    C,F,A,H,--122680442(+) GTTAAG/TATTTC 2 -- ds500115Minor allele frequency- T:0.32NS EA NA WA CSA 790
    rs1136114331,2
    C,--122680580(+) AACTCA/-AGAGA 2 -- ut311Minor allele frequency- -:0.00CSA 2
    rs114361601,2
    C--122680581(+) ACTCA-/AGAGAT 2 -- ut311Minor allele frequency- A:0.50NA 2
    rs10474841,2
    C,F,H,--122680667(-) TTCTAA/CAATGG 2 -- ut3117Minor allele frequency- C:0.14MN NS EA NA WA 2282
    rs746679441,2
    C,F,--122680672(+) TTAGAA/GAAGTC 2 -- ut311Minor allele frequency- G:0.07EA 120

    HapMap Linkage Disequilibrium report for CEP120 (122680579 - 122759286 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for CEP120
         2 CNVs: 4477 93219

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CEP120

    (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.)
    About This Section

    CEP120 for disorders           About GeneDecksing

    OMIM gene information: 613446    OMIM disorders: --

    3 diseases for CEP120:    About MalaCards
    obesity    cerebritis    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: CEP120 (1 document)

    Export disorders for CEP120 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 CEP120 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with CEP120)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cep120 and TACCs control interkinetic nuclear migration and the neural progenitor pool. (PubMed id 17920017)1, 3 Xie Z....Tsai L.H. (2007)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)1 Fox C.S....Borecki I.B. (2012)
    4. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    5. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    6. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    7. Hundreds of variants clustered in genomic loci and bi ological pathways affect human height. (PubMed id 20881960)1 Lango Allen H....Hirschhorn J.N. (2010)
    8. Genetic variants associated with cardiac structure an d function: a meta-analysis and replication of genome-wide association data. (PubMed id 19584346)1 Vasan R.S....Blankenberg S. (2009)
    9. Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. (PubMed id 19079260)1 Thorleifsson G....Stefansson K. (2009)
    10. The ups and downs of neural progenitors: Cep120 and T ACCs control interkinetic nuclear migration. (PubMed id 17920006)1 Guerrier S. and Polleux F. (2007)

    (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)
    About This Section
    Entrez Gene: 153241 HGNC: 26690 AceView: FLJ36090 Ensembl:ENSG00000168944 euGenes: HUgn153241
    ECgene: CEP120 H-InvDB: CEP120

    (According to HUGE)
    About This Section
      --

    (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 CEP120 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CEP120 gene:
    Search GeneIP for patents involving CEP120

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



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