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

TBL3 Gene

protein-coding   GIFtS: 59
GCID: GC16P002022

transducin (beta)-like 3

 Explore 4 diseases affiliated with
TBL3 via our new
 Human Malady Compendium 
Biological research products
for TBL3
    

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

Aliases
Transducin (Beta)-Like 31 2
SAZD1 2 3
UTP131 2
WD Repeat-Containing Protein SAZD2 3
Transducin Beta-Like Protein 32
WD-Repeat Protein SAZD2

External Ids:    HGNC: 115871   Entrez Gene: 106072   Ensembl: ENSG000001837517   OMIM: 6059155   UniProtKB: Q127883   

Export aliases for TBL3 gene to outside databases

Previous GC identifers: GC16P002039 GC16P001962 GC16P001946


(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 TBL3:
The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The
WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40
repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA
processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of
cytotypic differentiation. This gene has multiple polyadenylation sites. It might have multiple alternatively spliced
transcript variants but the variants have not been fully described yet. (provided by RefSeq, Jul 2008)

Gene Wiki entry for TBL3


(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_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBL3 gene promoter:
         SRF   NF-1/L   NF-1   MAZR   Pax-5   SRF (504 AA)   AP-4   NF-kappaB1   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBL3 promoter sequence
   Search SABiosciences Chromatin IP Primers for TBL3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBL3


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

TBL3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBL3 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P002022:  view genomic region     (about GC identifiers)

Start:
2,022,038 bp from pter      End:
2,032,934 bp from pter
Size:
10,897 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: TBL3_HUMAN, Q12788 (See protein sequence)
Recommended Name: Transducin beta-like protein 3  
Size: 808 amino acids; 89035 Da
Subcellular location: Nucleus, nucleolus
Sequence caution: Sequence=AAA18945.1; Type=Frameshift; Positions=Several; Sequence=BAD92410.1; Type=Erroneous
initiation;
Secondary accessions: Q59GD6 Q8IVB7 Q96A78

Explore the universe of human proteins at neXtProt for TBL3: NX_Q12788

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q12788

  • TBL3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006444.2  
    ENSEMBL proteins: 
     ENSP00000454836   ENSP00000454735   ENSP00000331815   ENSP00000457252  

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--
    GO:0032040small-subunit processome IEA--


    TBL3 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

    TBL3 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR013934 SSU_processome_Utp13
     IPR020472 G-protein_beta_WD-40_rep
     IPR017986 WD40_repeat_dom

    Graphical View of Domain Structure for InterPro Entry Q12788

    ProtoNet protein and cluster: Q12788

    1 Blocks protein family: IPB001680 G-protein beta WD-40 repeat signature

    UniProtKB/Swiss-Prot: TBL3_HUMAN, Q12788
    Similarity: Contains 13 WD repeats


    (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:
         Genatlas biochemistry entry for TBL3:
    transducin (beta)-like 3,located in the region of but not mutated in PKD1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005057receptor signaling protein activity TAS8307582


    TBL3 for ontologies           About GeneDecksing


    6 GenomeRNAi human phenotypes for TBL3:
     Decreased Hepatitis C virus re  Decreased Salmonella enterica   Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/ 
     Decreased influenza A/WSN/33 r  Nucleolar pre-40S maturation d 


    (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
    1Ribosome biogenesis in eukaryotes
    Ribosome biogenesis in eukaryotes1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for TBL3):
        Ribosome biogenesis in eukaryotes


    TBL3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBL3

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

    5/160 Interacting proteins for TBL3 (Q127882, 3 ENSP000003318154) via UniProtKB, MINT, STRING, and/or I2D (see all 160)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    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:0006364rRNA processing IEA--
    GO:0007199G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger TAS8307582


    TBL3 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 TBL3
    Search CenterWatch for drugs/clinical trials and news about TBL3 

    (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 TBL3 gene: 
    NM_006453.2  

    Unigene Cluster for TBL3:

    Transducin (beta)-like 3
    Hs.513267  [show with all ESTs]
    Unigene Representative Sequence: AK095076
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000568546(uc002cnu.1 uc010bsc.1 uc010uvt.1 uc002cnw.1)
    ENST00000561907 ENST00000569628(uc002cnv.1) ENST00000332704 ENST00000564728
    ENST00000569792 ENST00000564171 ENST00000567615

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    Additional cDNA sequence: 

    AB209173.1 AK095076.1 BC002361.2 BC007620.1 BC010231.1 BC014007.2 BC021563.1 BC035409.1 

    10 DOTS entries:

    DT.114051  DT.101984600  DT.95211130  DT.97818612  DT.102824754  DT.100814957  DT.120683991  DT.120684016 
    DT.91761621  DT.91817460 

    24/356 AceView cDNA sequences (see all 356):

    BP381871 BM709640 BM773330 BX354900 CF132017 BI763997 BC002361 BM763580 
    BM763895 BG491144 BQ213691 BM842844 BM914860 BX334337 AU138336 BM845904 
    BM695103 BU947867 BM752641 NM_006453 BQ064861 BM764279 BM762479 BU947604 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for TBL3 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                -     -     -                                                                                                               
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for TBL3

    (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

    TBL3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGCTCCCTG

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

    About this image
    See TBL3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBL3

    SOURCE GeneReport for Unigene cluster: Hs.513267
        SABiosciences Custom PCR Arrays for TBL3
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    In Situ
    Assay Products:
     

     
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TBL3 gene from 9/34 species (see all 34)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TBL31 transducin (beta)-like 3 67.22(n)
    66.08(a)
      416545  NM_001006166.1  NP_001006166.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    TBL36
    --
    67(a)
    39(a)
    1 ↔ 1
    possible ortholog
    GL343650.1(169621-178856)
    GL344276.1(73199-85629)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC691792 hypothetical protein MGC69179 75.57(n)    BC059354.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc08g062 Transcribed sequence with weak similarity to protein more 77.7(n)    CK145935.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG16711 , 3 2-acetyl-1-alkylglycerophosphocholine
    esterase3
    CG16711
    31(a)3
    49.29(n)1
    34.72(a)1
      360191  NM_136682.21  NP_610526.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y53C12B.13 WD domain, G-beta repeats (4 domains) 31(a)   II(9743041-9745977)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UTP13(YLR222C)4
    UTP131
    Nucleolar protein, component of the small subunit (SSU) more4
    Utp13p1
    41.07(n)1
    33.02(a)1
      12(581771-579318)4
    8509191, 4  NP_013323.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TOZ1 transducin/WD40 domain-containing protein 45.49(n)
    37.61(a)
      831538  NM_121681.3  NP_568338.2 
    rice
    (Oryza sativa)
    Liliopsida Os04g05927001 hypothetical protein 47.71(n)
    40.39(a)
      4336833  NM_001060253.1  NP_001053718.1 


    ENSEMBL Gene Tree for TBL3 (if available)
    TreeFam Gene Tree for TBL3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBL3 gene
    TEP12  
    7 SIMAP similar genes for TBL3 using alignment to 5 protein entries:     TBL3_HUMAN (see all proteins):
    GNB5    WDR61    PAAF1    PF20    WSB1    GNB2L1
    POC1B

    TBL3 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

    10/297 NCBI SNPs in TBL3 are shown (see all 297    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1809472671,2
    --2020087(+) CTCAAC/TCTCCC 1 -- us2k10--------
    rs1469857601,2
    --2020094(+) TCCCTA/GGGCTC 1 -- us2k10--------
    rs1173813161,2
    F,--2020373(+) CTTTCG/ATTTTT 1 -- us2k11Minor allele frequency- A:0.02NA 120
    rs1860664261,2
    --2020434(+) GGAGTA/GCAGAG 1 -- us2k10--------
    rs1476058021,2
    --2020451(+) TCACAA/GCTCAC 1 -- us2k10--------
    rs1909697461,2
    --2020512(+) AGTAGC/GTGGGA 1 -- us2k10--------
    rs780866481,2
    C,--2020550(+) ATTTTC/GTGTGT 1 -- us2k10--------
    rs1462630421,2
    C,--2020551(+) TTTTC-/TGTGTGT 1 -- us2k10--------
    rs2006687951,2
    --2020630(+) TCTCT-/GAGACAG 1 -- us2k10--------
    rs1163772881,2
    F,--2020663(+) GGAGTG/ACAGTG 1 -- us2k11Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for TBL3 (2022038 - 2032934 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for TBL3
         6 CNVs: 53306 29657 5329 30001 29656 4917

    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

    TBL3 for disorders           About GeneDecksing

    OMIM gene information: 605915    OMIM disorders: --

    4 diseases for TBL3:    About MalaCards
    polycystic kidney disease    kidney disease    thyroiditis    malaria

    Human Genome Epidemiology (HuGE) Navigator: TBL3 (2 documents)

    Export disorders for TBL3 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 TBL3 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with TBL3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A transducin-like gene maps to the autosomal dominant polycystic kidney disease gene region. (PubMed id 8307582)1, 2, 3, 9 Weinstat-Saslow D.L.... Reeders S.T. (1993)
    2. Functional proteomic analysis of human nucleolus. (PubMed id 12429849)1, 2 Scherl A.... Diaz J.-J. (2002)
    3. Functional proteomics establishes the interaction of S IRT7 with chromatin remodeling complexes and expands its role in regulation of R NA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C....Cristea I.M. (2012)
    4. Integrative analysis of the ubiquitin proteome isolat ed using Tandem Ubiquitin Binding Entities (TUBEs). (PubMed id 22178446)1 Lopitz-Otsoa F....Rodriguez M.S. (2011)
    5. 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)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Purification and identification of endogenous polySUMO conjugates. (PubMed id 21252943)1 Bruderer R....Hay R.T. (2011)
    9. Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)1 Yoshida T....Yamada Y. (2010)
    10. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)

    (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: 10607 HGNC: 11587 AceView: TBL3 Ensembl:ENSG00000183751 euGenes: HUgn10607
    ECgene: TBL3 Kegg: 10607 H-InvDB: TBL3

    (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 TBL3 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 TBL3 gene:
    Search GeneIP for patents involving TBL3

    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: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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