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

TBC1D10B Gene

protein-coding   GIFtS: 46
GCID: GC16M030368

TBC1 domain family, member 10B

 Explore 1 disease affiliated with
TBC1D10B via our new
 Human Malady Compendium 
Biological research products
for TBC1D10B
    

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

Aliases
TBC1 Domain Family, Member 10B1 2     FLJ131301
EPI64B1 2     Rab27A-GAP-Beta1
Rab27A-GAPbeta1 2     TBC1 Domain Family Member 10B2
DKFZP434P17501     Rab27A-GAP-Beta1

External Ids:    HGNC: 245101   Entrez Gene: 260002   Ensembl: ENSG000001692217   OMIM: 6136205   UniProtKB: Q4KMP73   

Export aliases for TBC1D10B gene to outside databases

Previous GC identifers: GC16M030277 GC16M030279 GC16M027930


(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 TBC1D10B:
Small G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the
GTP-bound state to the GDP-bound state with the assistance of guanine nucleotide exchange factors (GEFs; see MIM
609700) and GTPase-activating proteins (GAPs). TBC1D10B functions as a GAP for several proteins of the Rab family
(Ishibashi et al., 2009 (PubMed 19077034)).(supplied by OMIM, Nov 2010)

UniProtKB/Swiss-Prot: TB10B_HUMAN, Q4KMP7
Function: Acts as GTPase-activating protein for RAB3A, RAB22A, RAB27A, AND RAB35. Does not act on RAB2A and RAB6A




(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 TBC1D10B gene promoter:
         Bach1   HOXA9   HOXA9B   Elk-1   p53   C/EBPalpha   Meis-1b   HFH-1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBC1D10B promoter sequence
   Search SABiosciences Chromatin IP Primers for TBC1D10B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D10B


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

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

TBC1D10B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D10B gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M030368:  view genomic region     (about GC identifiers)

Start:
30,368,422 bp from pter      End:
30,381,585 bp from pter
Size:
13,164 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: TB10B_HUMAN, Q4KMP7 (See protein sequence)
Recommended Name: TBC1 domain family member 10B  
Size: 808 amino acids; 87199 Da
Subcellular location: Cytoplasm. Note=In melanocytes, located at the periphery of cells
Sequence caution: Sequence=AAH50523.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH63112.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH72453.2;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH93814.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=AAH93816.1; Type=Erroneous initiation; Note=Translation N-terminally
extended; Sequence=AAH98419.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAQ15206.1;
Type=Frameshift; Positions=154, 379, 401; Sequence=BAA92086.1; Type=Erroneous initiation; Note=Translation
N-terminally extended; Sequence=BAB14454.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAH16638.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=EAW52256.1;
Type=Erroneous gene model prediction;
Secondary accessions: B9A6L0 Q6IN54 Q6P530 Q71RG7 Q86VC5 Q9H8Z2 Q9NUN6 Q9UFP2
Alternative splicing: 2 isoforms:  Q4KMP7-1   Q4KMP7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TBC1D10B: NX_Q4KMP7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q4KMP7

  • TBC1D10B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_056342.3  
    ENSEMBL proteins: 
     ENSP00000386538   ENSP00000456663  

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    Uscn Proteins for TBC1D10B

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IEA--


    TBC1D10B 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

    TBC1D10B for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000195 Rab-GTPase-TBC_dom

    Graphical View of Domain Structure for InterPro Entry Q4KMP7

    ProtoNet protein and cluster: Q4KMP7

    1 Blocks protein family: IPB000195 RabGAP/TBC domain

    UniProtKB/Swiss-Prot: TB10B_HUMAN, Q4KMP7
    Similarity: Contains 1 Rab-GAP TBC 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: TB10B_HUMAN, Q4KMP7
    Function: Acts as GTPase-activating protein for RAB3A, RAB22A, RAB27A, AND RAB35. Does not act on RAB2A and RAB6A

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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:0005097Rab GTPase activator activity IDA19077034


    TBC1D10B for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for TBC1D10B:
     Decreased homologous recombina 


    (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 TBC1D10B

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

    2 Interacting proteins for TBC1D10B (ENSP000003865384) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABARAPL1ENSP000002664584STRING: ENSP00000266458
    MAP1LC3AENSP000003639704STRING: ENSP00000363970
    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:0032313regulation of Rab GTPase activity IDA19077034
    GO:0032851positive regulation of Rab GTPase activity IDA19077034


    TBC1D10B 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 TBC1D10B
    Search CenterWatch for drugs/clinical trials and news about TBC1D10B / TB10B 

    (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 TBC1D10B gene: 
    NM_015527.3  

    Unigene Cluster for TBC1D10B:

    TBC1 domain family, member 10B
    Hs.632182  [show with all ESTs]
    Unigene Representative Sequence: BC028737
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000475650(uc002dxt.2) ENST00000409939(uc002dxu.2) ENST00000478158
    ENST00000490703 ENST00000475872 ENST00000566671 ENST00000464644

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    hsa-miR-30c hsa-miR-4251 hsa-miR-657 hsa-miR-30d hsa-miR-23b* hsa-miR-30a hsa-miR-761 hsa-miR-518c
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    Inhib. RNA
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    Additional cDNA sequence: 

    AB449895.1 AF370370.1 AK002101.1 AK023192.1 AY007150.1 BC028737.1 BC038994.1 BC050523.2 
    BC063112.1 BC072453.1 BC093814.1 BC093816.1 BC098419.1 

    10 DOTS entries:

    DT.100059322  DT.413663  DT.91818284  DT.100696112  DT.100749654  DT.120671362  DT.40212595  DT.75155095 
    DT.92430790  DT.100715628 

    24/181 AceView cDNA sequences (see all 181):

    AI634733 BU739896 BQ688294 H52258 AL042941 BC072453 CR594390 BM684571 
    AW137171 BU507849 BM561704 BQ054293 BU171493 BC028737 BQ651046 BQ063911 
    BM720441 AK023192 BC050523 NM_015527 AA643984 BQ653749 BM797414 CF264977 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D10B (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9
    SP1:        -                       -     -           -                                             
    SP2:                                -     -           -                                             
    SP3:                                -     -           -           -     -     -                     
    SP4:                                                  -           -     -     -                     
    SP5:                                                  -                                             


    ECgene alternative splicing isoforms for TBC1D10B

    (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

    TBC1D10B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGCGCTTTG

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

    About this image
    See TBC1D10B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBC1D10B

    SOURCE GeneReport for Unigene cluster: Hs.632182
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TBC1D10B gene from 5/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia TBC1D10B6
    --
    72(a)
    1 ↔ 1
    GL343516.1(322262-338984)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.298092 Xenopus laevis transcribed sequence with moderate similarity more 81.41(n)    BJ029447.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BX571714.36
    --
    46(a)
    1 ↔ 1
    3(32931781-32948336)
    fruit fly
    (Drosophila melanogaster)
    Insecta wkd6
    whacked
    40(a)
    1 → many
    3R(7407301-7411027)
    worm
    (Caenorhabditis elegans)
    Secernentea tbc-196
    tbc-106
    --
    TBC (Tre-2/Bub2/Cdc16) domain family member (tbc-1...
    6(a)
    38(a)
    possible ortholog
    1 ↔ many
    X(14002950-14012526)
    III(977375-988437)


    ENSEMBL Gene Tree for TBC1D10B (if available)
    TreeFam Gene Tree for TBC1D10B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBC1D10B gene
    TBC1D3H2  SGSM32  TBC1D2B2  TBC1D3C2  GRTP12  TBC1D10C2  TBC1D32  TBC1D3F2  
    TBC1D262  ENSG000002487512  TBC1D10A2  TBC1D22  TBC1D3G2  USP6NL2  TBC1D282  TBC1D3B2  
    8 SIMAP similar genes for TBC1D10B using alignment to 2 protein entries:     TB10B_HUMAN (see all proteins):
    FLJ00288    TBC1D10A    dJ130H16.2    TBC1D10C    TBC1D3G    SGSM3
    GRTP1    TBC1D6

    TBC1D10B 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

    10/193 NCBI SNPs in TBC1D10B are shown (see all 193    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1856583771,2
    --30368762(+) CAGAAA/GACAAA 1 -- ut310--------
    rs1904256271,2
    --30368889(+) GGAAGC/GCAGCT 1 -- ut310--------
    rs1380399871,2
    --30368923(+) GAGTG-/TTAAGA 1 -- ut310--------
    rs1829517761,2
    --30368924(+) GGAGTC/GTAAGA 1 -- ut310--------
    rs740150061,2
    C,--30369030(+) GGCAGG/AAGCGA 1 -- ut311Minor allele frequency- A:0.50WA 2
    rs1871075731,2
    --30369110(+) GCCCGC/TGTAGG 1 -- ut310--------
    rs1916427811,2
    --30369129(+) GCTGGA/CGAGGA 1 -- ut310--------
    rs1420255311,2
    --30369138(+) GAGATA/GGGGAA 1 -- ut310--------
    rs1839392241,2
    --30369244(+) CATGCA/CGTCCA 1 -- ut310--------
    rs1451700741,2
    C,F,--30369277(+) TAAGCG/ATCCTG 2 /D syn11Minor allele frequency- A:0.00NA 2544

    HapMap Linkage Disequilibrium report for TBC1D10B (30368422 - 30381585 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for TBC1D10B
         1 CNV: 4001
         1 Indel: 72528

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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

    TBC1D10B for disorders           About GeneDecksing

    OMIM gene information: 613620    OMIM disorders: --

    1 disease for TBC1D10B:    About MalaCards
    malaria


    Export disorders for TBC1D10B 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 TBC1D10B gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with TBC1D10B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PubMed id 19077034)1, 2 Ishibashi K.... Fukuda M. (2009)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    4. Rab GTPase-activating proteins in autophagy: regulatio n of endocytic and autophagy pathways by direct binding to human ATG8 modifiers. (PubMed id 22354992)1 Popovic D....Dikic I. (2012)
    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. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    7. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    8. Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis. (PubMed id 18220336)2 Cantin G.T....Yates J.R. III (2008)
    9. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    10. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (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: 26000 HGNC: 24510 AceView: DKFZP434P1750 Ensembl:ENSG00000169221 euGenes: HUgn26000
    ECgene: TBC1D10B H-InvDB: TBC1D10B

    (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 TBC1D10B 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 TBC1D10B gene:
    Search GeneIP for patents involving TBC1D10B

    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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