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

ZBTB46 Gene

protein-coding   GIFtS: 47
GCID: GC20M062375

zinc finger and BTB domain containing 46

(Previous name: BTB (POZ) domain containing 4 )
(Previous symbols: ZNF340, BTBD4)
  Search for ZBTB46
in our new
 Human Malady Compendium 
Biological research products
for ZBTB46
    

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

Aliases
Zinc Finger And BTB Domain Containing 461 2     BTB-ZF Protein Expressed In Effector Lymphocytes2 3
BTBD41 2 3     BTB/POZ Domain-Containing Protein 42 3
BZEL1 2 3     FLJ135021
ZNF3401 2 3     DJ583P15.71
RINZF1 2     DJ583P15.81
BTB (POZ) Domain Containing 41 2     Zinc Finger And BTB Domain-Containing Protein 462
Zinc Finger Protein 3402 3     

External Ids:    HGNC: 160941   Entrez Gene: 1406852   Ensembl: ENSG000001305847   OMIM: 6146395   UniProtKB: Q86UZ63   

Export aliases for ZBTB46 gene to outside databases

Previous GC identifers: GC20M061845 GC20M059108


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

UniProtKB/Swiss-Prot: ZBT46_HUMAN, Q86UZ6
Function: Function as a transcriptional repressor for PRDM1 (By similarity)




(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_000020.10  NC_018931.1  NT_011333.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ZBTB46 gene promoter:
         HOXA9B   HOXA9   STAT1   STAT1beta   Meis-1b   STAT1alpha   MEF-2A   aMEF-2   RSRFC4   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZBTB46 promoter sequence
   Search SABiosciences Chromatin IP Primers for ZBTB46

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZBTB46


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

Entrez Gene cytogenetic band: 20q13.33   Ensembl cytogenetic band:  20q13.33   HGNC cytogenetic band: 20q13.33

ZBTB46 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZBTB46 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M062375:  view genomic region     (about GC identifiers)

Start:
62,375,019 bp from pter      End:
62,462,597 bp from pter
Size:
87,579 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: ZBT46_HUMAN, Q86UZ6 (See protein sequence)
Recommended Name: Zinc finger and BTB domain-containing protein 46  
Size: 589 amino acids; 64083 Da
Subcellular location: Nucleus (Potential)
Secondary accessions: E1P5K9 Q5JWJ3 Q6GMV4 Q9BQK3 Q9H3Z8 Q9H3Z9

Explore the universe of human proteins at neXtProt for ZBTB46: NX_Q86UZ6

Post-translational modifications:

  • Sumoylated. Desumoylation by PPPDE2 reverses transcriptional repression activity (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86UZ6

  • ZBTB46 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_079500.2  
    ENSEMBL proteins: 
     ENSP00000245663   ENSP00000303102   ENSP00000378536  

    Human Recombinant Protein Products: 
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ZBTB46

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--


    ZBTB46 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ZBTB46


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

    ZBTB46 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR015880 Znf_C2H2-like
     IPR011333 BTB/POZ_fold
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR013069 BTB_POZ
     IPR000210 BTB/POZ-like

    Graphical View of Domain Structure for InterPro Entry Q86UZ6

    ProtoNet protein and cluster: Q86UZ6

    1 Blocks protein family: IPB000210 BTB/POZ domain

    UniProtKB/Swiss-Prot: ZBT46_HUMAN, Q86UZ6
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 2 C2H2-type zinc fingers


    (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: ZBT46_HUMAN, Q86UZ6
    Function: Function as a transcriptional repressor for PRDM1 (By similarity)

    miRNA
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    hsa-miR-576-3p hsa-miR-15a hsa-miR-1260b hsa-miR-200a hsa-miR-938 hsa-miR-374a hsa-miR-519a hsa-miR-877*
    SwitchGear 3'UTR luciferase reporter plasmidZBTB46 3' UTR sequence
    Inhib. RNA
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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:0003676nucleic acid binding IEA--
    GO:0008270zinc ion binding IEA--


    ZBTB46 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ZBTB46:
     Decreased viability with pacli 

    Animal Models:
         Mouse knock-out Zbtb46tm2.1Mnz for ZBTB46
         2 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Zbtb46):
     hematopoietic system  immune system 

    ZBTB46 for phenotypes           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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ZBTB46

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

    5/6 Interacting proteins for ZBTB46 (Q86UZ63 ENSP000002456634) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AXIN2Q9Y2T13I2D: score=1 
    NKD1Q969G93I2D: score=1 
    DESI1ENSP000002632564STRING: ENSP00000263256
    SUMO1ENSP000003760764STRING: ENSP00000376076
    UBCENSP000003448184STRING: ENSP00000344818
    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:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--


    ZBTB46 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 ZBTB46
    Search CenterWatch for drugs/clinical trials and news about ZBTB46 / ZBT46 

    (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 ZBTB46 gene: 
    NM_025224.3  

    Unigene Cluster for ZBTB46:

    Zinc finger and BTB domain containing 46
    Hs.585028  [show with all ESTs]
    Unigene Representative Sequence: NM_025224
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000245663(uc002ygv.2) ENST00000460757 ENST00000480766 ENST00000302995(uc002ygu.3)
    ENST00000395104

    miRNA
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    8/85 QIAGEN miScript miRNA Assays for microRNAs that regulate ZBTB46 (see all 85):
    hsa-miR-576-3p hsa-miR-15a hsa-miR-1260b hsa-miR-200a hsa-miR-938 hsa-miR-374a hsa-miR-519a hsa-miR-877*
    SwitchGear 3'UTR luciferase reporter plasmidZBTB46 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ZBTB46
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ZBTB46

    Additional cDNA sequence: 

    AK023564.1 AK126720.1 AK131482.1 

    14 DOTS entries:

    DT.97803346  DT.40255572  DT.100782599  DT.40236365  DT.100782597  DT.109292  DT.100717639  DT.120824915 
    DT.446689  DT.86852840  DT.99957219  DT.99959149  DT.100038068  DT.75185917 

    24/86 AceView cDNA sequences (see all 86):

    AA575939 AV660466 AA653616 BU686323 AI356331 AI290094 AU136363 AV660389 
    BM666831 AK023564 BF058957 AK126720 AL732298 AV659783 AI090891 CB269962 
    AW772618 Z43496 AK131482 BM149515 R40962 F04019 BQ957018 BF445912 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ZBTB46    About this scheme

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


    ECgene alternative splicing isoforms for ZBTB46

    (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

    ZBTB46 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCTCTGCCGT

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

    About this image

    ZBTB46 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: 2 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ZBTB46 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZBTB46

    SOURCE GeneReport for Unigene cluster: Hs.585028
        SABiosciences Custom PCR Arrays for ZBTB46
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZBTB46

    (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 ZBTB46 gene from 3/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ZBTB461 zinc finger and BTB domain containing 46 79.86(n)
    82.62(a)
      419259  XM_417431.2  XP_417431.2 
    lizard
    (Anolis carolinensis)
    Reptilia ZBTB466
    --
    48(a)
    1 ↔ 1
    4(156397473-156449646)
    zebrafish
    (Danio rerio)
    Actinopterygii zbtb461 zinc finger and BTB domain containing 46 70.56(n)
    71.55(a)
      570537  XM_694032.4  XP_699124.4 


    ENSEMBL Gene Tree for ZBTB46 (if available)
    TreeFam Gene Tree for ZBTB46 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ZBTB46 gene
    ZBTB102  ZBTB32  ZBTB182  ZBTB8A2  ZBTB442  ZBTB52  ENSG000002545532  HIC12  
    ZBTB492  ZBTB242  GZF12  ZBTB422  HIC22  MYNN2  ZBTB8B2  ZBTB172  
    15 SIMAP similar genes for ZBTB46 using alignment to 1 protein entry:     ZBT46_HUMAN:
    BACH2    DKFZp434J0650    kr-znf3    KLHL32    ZNF55    ZNF
    A-328A3.4    DKFZp547H249    ZNF808    ZBTB10    ZFS-2    ZNF78L1
    DKFZp686N0199    ZNF697    ZNF702P

    ZBTB46 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

    10/1392 NCBI SNPs in ZBTB46 are shown (see all 1392    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1379092681,2
    --62375959(+) GACATA/GTCTTT 1 -- ut310--------
    rs1420179991,2
    --62376117(+) AAAATC/GCCCCT 1 -- ut310--------
    rs770400741,2
    C,--62376130(+) AGCTCC/TGGCGG 1 -- ut312Minor allele frequency- T:0.06CSA WA 120
    rs1889659141,2
    --62376167(+) AGGCCA/CCACGG 1 -- ut310--------
    rs24275371,2
    C,F,A,H,--62376227(+) GGGCCC/TGGGTC 1 -- ut31 ese320Minor allele frequency- T:0.47NS EA NA CSA WA 2325
    rs1926241621,2
    --62376263(+) GACTGA/GTACAA 1 -- ut310--------
    rs1130826831,2
    C,--62376329(+) AAAGTC/TAGTCT 1 -- ut311Minor allele frequency- T:0.50NA 2
    rs60106371,2
    C,F,A,H,--62376462(+) ATGCTC/GTCCCC 1 -- ut31 trp34Minor allele frequency- G:0.28NA CSA WA 122
    rs22819251,2
    C,F,--62376503(+) TGCTCG/AGTAAG 1 -- ut314Minor allele frequency- A:0.25EA WA NA 1844
    rs1458867111,2
    --62376548(+) TGGCCC/TGGCTC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ZBTB46 (62375019 - 62462597 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for ZBTB46
         4 CNVs: 53070 61940 4107 30135
         1 Indel: 41310

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ZBTB46
    DNA2.0 Custom Variant and Variant Library Synthesis for ZBTB46

    (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

    ZBTB46 for disorders           About MalaCards

    ZBTB46 for disorders           About GeneDecksing

    OMIM gene information: 614639    OMIM disorders: --


    Export disorders for ZBTB46 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 ZBTB46 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ZBTB46)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    3. DeSUMOylating isopeptidase: a second class of SUMO pro tease. (PubMed id 22370726)1 Shin E.J....Yun Y. (2012)
    4. Meta-analysis identifies 29 additional ulcerative col itis risk loci, increasing the number of confirmed associations to 47. (PubMed id 21297633)1 Anderson C.A....Rioux J.D. (2011)
    5. Genetic risk and a primary role for cell-mediated immu ne mechanisms in multiple sclerosis. (PubMed id 21833088)1  ....Compston A. (2011)
    6. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    7. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
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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: 140685 HGNC: 16094 AceView: BTBD4 Ensembl:ENSG00000130584 euGenes: HUgn140685
    ECgene: ZBTB46 H-InvDB: ZBTB46

    (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 ZBTB46 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 ZBTB46 gene:
    Search GeneIP for patents involving ZBTB46

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



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