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

TTC28 Gene

protein-coding   GIFtS: 45
GCID: GC22M028374

Tetratricopeptide Repeat Domain 28

  See related disease
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
Tetratricopeptide Repeat Domain 281 2     Tetratricopeptide Repeat Protein 282
TPRBK2 3     TPR-Containing Big Gene Cloned At Keio2
TPR Repeat Protein 282 3     KIAA10433
TPR Repeat-Containing Big Gene Cloned At Keio2 3     

External Ids:    HGNC: 291791   Entrez Gene: 233312   Ensembl: ENSG000001001547   OMIM: 6150985   UniProtKB: Q96AY43   

Export aliases for TTC28 gene to outside databases

Previous GC identifers: GC22M026704 GC22M011338


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

GeneCards Summary for TTC28 Gene: 
TTC28 (tetratricopeptide repeat domain 28) is a protein-coding gene. Diseases associated with TTC28 include obesity. An important paralog of this gene is GPSM2.

UniProtKB/Swiss-Prot: TTC28_HUMAN, Q96AY4
Function: During mitosis, may be involved in the condensation of spindle midzone microtubules, leading to the
formation of midbody




(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_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TTC28 gene promoter:
         HOXA9B   HOXA9   SRF   AML1a   SRF (504 AA)   Meis-1b   Evi-1   AREB6   FOXC1   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for TTC28

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTC28


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

Entrez Gene cytogenetic band: 22q12.1   Ensembl cytogenetic band:  22q12.1   HGNC cytogenetic band: 22q12.1

TTC28 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC28 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M028374:  view genomic region     (about GC identifiers)

Start:
28,374,002 bp from pter      End:
29,075,853 bp from pter
Size:
701,852 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: TTC28_HUMAN, Q96AY4 (See protein sequence)
Recommended Name: Tetratricopeptide repeat protein 28  
Size: 2481 amino acids; 270884 Da
Subunit: Interacts with AURKB
Subcellular location: Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cytoskeleton, microtubule organizing
center, centrosome (By similarity). Cytoplasm, cytoskeleton, spindle (By similarity). Cytoplasm, cytoskeleton,
spindle pole (By similarity). Midbody (By similarity). Note=At interphase, localizes to centrosomes. At
prometaphase and metaphase, associated with spindle microtubules and spindle poles. At anaphase, accumulates in
the spindle midzone. At telophase, condensed on central spindles. During cytokinesis, condensed on the midbody
where it colocalizes with AURKB (By similarity)
Sequence caution: Sequence=AAH16465.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAB62963.1; Type=Erroneous gene model prediction; Sequence=CAB62964.1; Type=Erroneous gene model
prediction;
Secondary accessions: K7ZRV2 O95928 O95929 Q5W189 Q9NTE4 Q9UG31 Q9UGG5 Q9UPV8 Q9Y3S5

Explore the universe of human proteins at neXtProt for TTC28: NX_Q96AY4

Explore proteomics data for TTC28 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96AY4

  • TTC28 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TTC28 Protein Expression
    REFSEQ proteins: NP_001138890.1  
    ENSEMBL proteins: 
     ENSP00000381003   ENSP00000410244   ENSP00000388788  

    Human Recombinant Protein Products for TTC28: 
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    Cloud-Clone Corp. Proteins for TTC28 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000922spindle pole IEA--
    GO:0005737cytoplasm IEA--
    GO:0005815microtubule organizing center IEA--
    GO:0030496midbody IEA--

    TTC28 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TTC: Tetratricopeptide (TTC) repeat domain containing

    5/6 InterPro protein domains (see all 6):
     IPR024983 CHAT_dom
     IPR001440 TPR-1
     IPR011990 TPR-like_helical
     IPR013105 TPR_2
     IPR013026 TPR-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q96AY4

    ProtoNet protein and cluster: Q96AY4

    1 Blocks protein domain: IPB011595 TPR-related region

    UniProtKB/Swiss-Prot: TTC28_HUMAN, Q96AY4
    Similarity: Contains 28 TPR repeats


    TTC28 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: TTC28_HUMAN, Q96AY4
    Function: During mitosis, may be involved in the condensation of spindle midzone microtubules, leading to the
    formation of midbody

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    TTC28 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TTC28:
     Synthetic lethal with c-Myc af 

    Animal Models:
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    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TTC28

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/7 Interacting proteins for TTC28 (Q96AY43 ENSP000003810034) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BREQ9NXR73, ENSP000003434124I2D: score=2 STRING: ENSP00000343412
    ZNF862O602903, ENSP000002232104I2D: score=1 STRING: ENSP00000223210
    YWHAGP619813I2D: score=2 
    AXIN2Q9Y2T13I2D: score=1 
    SSPOA2VEC93I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007067mitosis IEA--
    GO:0051301cell division IEA--

    TTC28 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 TTC28

    Search CenterWatch for drugs/clinical trials and news about TTC28

    (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 TTC28 gene (2 alternative transcripts): 
    NM_015281.1  NM_001145418.1  

    Unigene Cluster for TTC28:

    Tetratricopeptide repeat domain 28
    Hs.387856  [show with all ESTs]
    Unigene Representative Sequence: NM_001145418
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397906(uc003adp.4) ENST00000431039 ENST00000480563 ENST00000469670
    ENST00000442232 ENST00000490475 ENST00000468807
    miRNA
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    8/114 QIAGEN miScript miRNA Assays for microRNAs that regulate TTC28 (see all 114):
    hsa-miR-4272 hsa-miR-200a hsa-miR-128 hsa-miR-3653 hsa-miR-30d hsa-miR-3161 hsa-miR-409-5p hsa-miR-30a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Additional mRNA sequence: 

    AB028966.3 AB665284.1 AK055553.1 AK092338.1 AL080174.1 AL137328.1 BC016465.1 

    10 DOTS entries:

    DT.309770  DT.415144  DT.415145  DT.100022255  DT.99954436  DT.100648656  DT.40241226  DT.86821042 
    DT.99952911  DT.120662985 

    24/70 AceView cDNA sequences (see all 70):

    BC016465 AL137328 CA397387 AW020581 AI271769 AW629816 NM_015281 BU902636 
    AA359630 BI826649 AB028966 AI005637 AA443013 CA842002 CD557422 AW959321 
    BU507114 BE301316 AL080174 BI712730 CF143247 AI306147 BF034701 BX453458 

    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

    TTC28 expression in normal human tissues (normalized intensities)      TTC28 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTTCCCTCA
    TTC28 Expression
    About this image


    TTC28 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             superior temporal gyrus   
     
     Gonad
             Primordial Germ Cells Allantois
     
     Placenta (Extraembryonic Tissues)
             Primordial Germ Cells Allantois

    See TTC28 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TTC28

    SOURCE GeneReport for Unigene cluster: Hs.387856

    UniProtKB/Swiss-Prot: TTC28_HUMAN, Q96AY4
    Tissue specificity: Widely expressed in fetal tissues. In adult tissues, expressed in testis and ovary and, at
    much lower levels, in kidney and pancreas

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC28

    (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 TTC28 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ttc285 tetratricopeptide repeat domain 28   --   5 (53.74 cM) 110879803 
    chicken
    (Gallus gallus)
    Aves TTC281 tetratricopeptide repeat domain 28 79.86(n)
    89.93(a)
      416914  XM_415205.3  XP_415205.3 
    zebrafish
    (Danio rerio)
    Actinopterygii AL913031.12   -- 73.53(n)   323057  AL913031.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG431631 CG43163 53.94(n)
    51.83(a)
      38966  NM_139971.2  NP_648228.2 


    ENSEMBL Gene Tree for TTC28 (if available)
    TreeFam Gene Tree for TTC28 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TTC28 gene
    GPSM22  GPSM12  

    TTC28 for paralogs           About GeneDecksing



    (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

    10/10549 SNPs in TTC28 are shown (see all 10549)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1178135841,2
    F--28399244(+) ACACCG/ATGGAG 1 -- int11Minor allele frequency- A:0.02EA 120
    rs1390708821,2
    --28399261(+) CAGTGA/GACCTC 1 -- int10--------
    rs1878411071,2
    --28399415(+) CAAAAC/GTGGAC 1 -- int10--------
    rs1429997331,2
    --28399473(+) CAGCCC/TCAGCC 1 -- int10--------
    rs1920161851,2
    C--28399687(+) ATCCAC/TGCAGA 1 -- int10--------
    rs1828073971,2
    --28399722(+) TTCGTA/GGAACT 1 -- int10--------
    rs1879422891,2
    --28399753(+) ACCTCA/GTCTGC 1 -- int10--------
    rs1179348711,2
    F--28399759(+) TCTGCG/AGCACA 1 -- int11Minor allele frequency- A:0.03EA 120
    rs1511136221,2
    --28399903(+) AGCCAC/TTGAGT 1 -- int10--------
    rs121602321,2
    C,F--28399915(+) GTGTCC/TGTCAT 1 -- int17Minor allele frequency- T:0.05NA CSA WA EA 502

    HapMap Linkage Disequilibrium report for TTC28 (28374002 - 28624002 bp, first 250kb of TTC28)

    Structural Variations
         Database of Genomic Variants (DGV) 10/19 variations for TTC28 (see all 19):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2671339CNV Deletion23128226
    esv2724118CNV Deletion23290073
    esv2669108CNV Deletion23128226
    esv271686CNV Insertion20981092
    nsv3588CNV Insertion18451855
    esv272872CNV Insertion20981092
    esv269768CNV Insertion20981092
    nsv819641CNV Loss19587683
    nsv525906CNV Loss19592680
    nsv459867CNV Loss19166990

    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 615098    OMIM disorders: --

    2 diseases for TTC28:    About MalaCards
    obesity    


    TTC28 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TTC28
    Human Genome Epidemiology (HuGE) Navigator: TTC28 (1 document)

    Export disorders for TTC28 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 TTC28 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with TTC28)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2, 3 Kikuno R....Ohara O. (1999)
    2. A novel big protein TPRBK possessing 25 units of TPR motif is essential for the progress of mitosis and cytokinesis. (PubMed id 23036704)1, 2 Izumiyama T.... Shimizu N. (2012)
    3. A genome-wide association study on obesity and obesit y-related traits. (PubMed id 21552555)1, 4 Wang K....Price R.A. (2011)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    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. (2004)
    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 DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    8. Why do cellular proteins linked to K63-polyubiquitin c hains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (2013)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. 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)

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

      Query String
    PubMed
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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: 23331 HGNC: 29179 AceView: KIAA1043 Ensembl:ENSG00000100154 euGenes: HUgn23331
    ECgene: TTC28 H-InvDB: TTC28

    (According to HUGE)
    About This Section
    HUGE: KIAA1043

    (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 TTC28 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 TTC28 gene:
    Search GeneIP for patents involving TTC28

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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