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

CEP72 Gene

protein-coding   GIFtS: 52
GCID: GC05P000612

centrosomal protein 72kDa

 Explore 4 diseases affiliated with
CEP72 via our new
 Human Malady Compendium 
Biological research products
for CEP72
    

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

Aliases
Centrosomal Protein 72kDa1 2
KIAA15191 3
FLJ105651
Centrosomal Protein Of 72 KDa2
Cep723

External Ids:    HGNC: 255471   Entrez Gene: 557222   Ensembl: ENSG000001128777   UniProtKB: Q9P2093   

Export aliases for CEP72 gene to outside databases

Previous GC identifer: GC05P000667


(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 CEP72:
The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized
to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal
cells. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CEP72_HUMAN, Q9P209
Function: Involved in the recruitment of key centrosomal proteins to the centrosome. Provides centrosomal
microtubule-nucleation activity on the gamma-tubulin ring complexes (gamma-TuRCs) and has critical roles in forming a
focused bipolar spindle, which is needed for proper tension generation between sister chromatids. Required for
localization of KIZ/PLK1S1, AKAP9 and gamma-tubulin ring complexes (gamma-TuRCs)

Gene Wiki entry for CEP72


(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_006576.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CEP72 gene promoter:
         c-Fos   Sox5   AP-1   Fra-1   FosB   Evi-1   PPAR-gamma1   PPAR-gamma2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCEP72 promoter sequence
   Search SABiosciences Chromatin IP Primers for CEP72

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CEP72


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

Entrez Gene cytogenetic band: 5p15.33   Ensembl cytogenetic band:  5p15.33   HGNC cytogenetic band: 5p15.33

CEP72 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CEP72 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P000612:  view genomic region     (about GC identifiers)

Start:
612,387 bp from pter      End:
667,283 bp from pter
Size:
54,897 bases      Orientation:
plus 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: CEP72_HUMAN, Q9P209 (See protein sequence)
Recommended Name: Centrosomal protein of 72 kDa  
Size: 647 amino acids; 71718 Da
Subunit: Interacts with KIZ/PLK1S1
Subcellular location: Cytoplasm, cytoskeleton, centrosome. Note=Localizes to the centrosome and centrosome-surrounding
particles throughout the cell cycle. These particles disappear after microtubules are depolymerized using nocodazole,
suggesting that CEP72-associating particles localize in a microtubule-dependent manner
Sequence caution: Sequence=BAA91685.1; Type=Erroneous initiation; Sequence=BAA96043.1; Type=Erroneous initiation;
Secondary accessions: B4DR26 Q9BV03 Q9BWM3 Q9NVR4
Alternative splicing: 2 isoforms:  Q9P209-1   Q9P209-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CEP72: NX_Q9P209

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9P209

  • CEP72 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060610.2  
    ENSEMBL proteins: 
     ENSP00000264935   ENSP00000392052  
    Reactome Protein details: Q9P209
    Human Recombinant Protein Products: 
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    Uscn Proteins for CEP72

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005813centrosome IDA--
    GO:0005829cytosol TAS--


    CEP72 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

    CEP72 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001611 Leu-rich_rpt
     IPR025875 Leu-rich_rpt_4
     IPR003603 U2A'_phosphoprotein32A_C

    Graphical View of Domain Structure for InterPro Entry Q9P209

    ProtoNet protein and cluster: Q9P209

    UniProtKB/Swiss-Prot: CEP72_HUMAN, Q9P209
    Similarity: Belongs to the CEP72 family
    Similarity: Contains 3 LRR (leucine-rich) repeats
    Similarity: Contains 1 LRRCT domain


    (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: CEP72_HUMAN, Q9P209
    Function: Involved in the recruitment of key centrosomal proteins to the centrosome. Provides centrosomal
    microtubule-nucleation activity on the gamma-tubulin ring complexes (gamma-TuRCs) and has critical roles in forming a
    focused bipolar spindle, which is needed for proper tension generation between sister chromatids. Required for
    localization of KIZ/PLK1S1, AKAP9 and gamma-tubulin ring complexes (gamma-TuRCs)

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidCEP72 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CEP72 (see all 4)
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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 IPI--
    GO:0042802identical protein binding IEA--


    CEP72 for ontologies           About GeneDecksing



    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Recruitment of mitotic centrosome proteins and complexes
    Centrosome maturation1.00
    Mitotic G2-G2/M phases0.81
    Recruitment of mitotic centrosome proteins and complexes1.00
    Loss of proteins required for interphase microtubule organization from the centrosome0.78
    G2/M Transition0.83
    Loss of Nlp from mitotic centrosomes0.78
    2Cell Cycle
    Cell Cycle1.00
    Cell Cycle, Mitotic0.84

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/8        Reactome Pathways for CEP72 (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



    CEP72 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CEP72

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

    5/77 Interacting proteins for CEP72 (Q9P2091, 2, 3 ENSP000002649354) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLK1S1Q2M2Z52, 3MINT-7298066 MINT-7298084 MINT-7298075 I2D: score=1 
    LNX1Q8TBB12, 3, ENSP000002639254MINT-67141 I2D: score=5 STRING: ENSP00000263925
    ZBTB16Q055162, 3, ENSP000003381574MINT-66632 I2D: score=5 STRING: ENSP00000338157
    ZNF417Q8TAU32, 3, ENSP000003113194MINT-67447 I2D: score=4 STRING: ENSP00000311319
    KIAA0408Q6ZU522, 3MINT-66023 I2D: score=5 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0007051spindle organization IMP19536135
    GO:0033566gamma-tubulin complex localization IMP19536135


    CEP72 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 CEP72
    Search CenterWatch for drugs/clinical trials and news about CEP72 

    (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,
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    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 CEP72 gene: 
    NM_018140.3  

    Unigene Cluster for CEP72:

    Centrosomal protein 72kDa
    Hs.591741  [show with all ESTs]
    Unigene Representative Sequence: NM_018140
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264935(uc003jbf.3) ENST00000512038 ENST00000499639 ENST00000514507
    ENST00000444221(uc011clz.1)

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    Inhib. RNA
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    Additional cDNA sequence: 

    AB040952.1 AK001427.1 AK299072.1 BC000132.2 BC001750.1 

    2 DOTS entries:

    DT.40119990  DT.95297425 

    24/60 AceView cDNA sequences (see all 60):

    NM_018140 BM128194 BC001750 BP350496 AI739508 AW291219 AK001427 AW675487 
    BP376675 AI308771 BC000132 CK819219 AL043475 BP350529 AW294741 AI739509 
    BM688848 AI280589 BE502337 AB040952 BQ771509 BG822232 BX952752 AI864389 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CEP72    About this scheme

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


    ECgene alternative splicing isoforms for CEP72

    (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

    CEP72 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTCAGACA

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

    About this image

    CEP72 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor EN2 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CEP72 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CEP72

    SOURCE GeneReport for Unigene cluster: Hs.591741
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP72

    (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 chordates.

    Orthologs for CEP72 gene from 2/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cep721 , 5 centrosomal protein 721, 5 73.74(n)1
    67.55(a)1
      13 (40.15 cM)5
    744701  NM_028959.31  NP_083235.31 
     740364955 
    zebrafish
    (Danio rerio)
    Actinopterygii cep721 centrosomal protein 72 50.05(n)
    37.26(a)
      553488  XM_002667722.2  XP_002667768.2 


    ENSEMBL Gene Tree for CEP72 (if available)
    TreeFam Gene Tree for CEP72 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CEP72 gene
    LRRC362  

    CEP72 for paralogs           About GeneDecksing



    (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

    10/1273 NCBI SNPs in CEP72 are shown (see all 1273    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs9246081,2
    C,F,A,H,--610537(+) CACACC/ACCCCC 1 -- us2k110Minor allele frequency- A:0.03NS EA WA NA CSA 776
    rs781462551,2
    C,--610681(+) TCACAC/TACCAT 1 -- us2k14Minor allele frequency- T:0.03WA NA EA 360
    rs1465519341,2
    --610699(+) TCCTGC/GACACA 1 -- us2k10--------
    rs1856712951,2
    --610867(+) TACCTC/GCTGCA 1 -- us2k10--------
    rs1904962231,2
    --611060(+) CACACA/CCCTCC 1 -- us2k10--------
    rs730448931,2
    C,F,--611102(+) AGACCC/GTGCAC 1 -- us2k14Minor allele frequency- G:0.16WA NA 242
    rs1415519001,2
    --611168(+) CCCCTA/GCATAC 1 -- us2k10--------
    rs1503929791,2
    --611193(+) ACTGCA/GCATAC 1 -- us2k10--------
    rs23359531,2
    C,F,H,--611254(-) GTGTGC/TAGACA 1 -- us2k14Minor allele frequency- T:0.02NS NA 578
    rs1499383981,2
    C,--611386(+) CACAC-/CCCCT 
     ACACACT
    CCCCT
    1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CEP72 (612387 - 667283 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 31 variations for CEP72
         15/20 CNVs (see all 20): 2564 2078 0705 32691 2077 4428 53290 92791 3537 68938 8476 0706 68939 2079 92792
         11 Indels: 27991 27989 92793 12636 68937 12635 27988 46914 33781 80758 27992

    SABiosciences Cancer Mutation PCR Assays
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    (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

    CEP72 for disorders           About GeneDecksing

    4 diseases for CEP72:    About MalaCards
    macular degeneration    rheumatoid arthritis    arthritis    ataxia

    Human Genome Epidemiology (HuGE) Navigator: CEP72 (2 documents)

    Export disorders for CEP72 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 CEP72 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with CEP72)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2, 3 Nagase T.... Ohara O. (2000)
    2. Cep72 regulates the localization of key centrosomal proteins and proper bipolar spindle formation. (PubMed id 19536135)1, 2 Oshimori N.... Yamamoto T. (2009)
    3. 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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Proteomic characterization of the human centrosome by protein correlation profiling. (PubMed id 14654843)1, 2 Andersen J.S....Mann M. (2003)
    6. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
    7. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    8. 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)
    9. Comparison of an expanded ataxia interactome with pat ient medical records reveals a relationship between macular degeneration and at axia. (PubMed id 21078624)1 Kahle J.J....Zoghbi H.Y. (2011)
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    (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: 55722 HGNC: 25547 AceView: Cep72 Ensembl:ENSG00000112877 euGenes: HUgn55722
    ECgene: CEP72 H-InvDB: CEP72

    (According to HUGE)
    About This Section
    HUGE: KIAA1519

    (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 CEP72 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 CEP72 gene:
    Search GeneIP for patents involving CEP72

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



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