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ZPLD1 Gene

protein-coding   GIFtS: 46
GCID: GC03P101818

Zona Pellucida-Like Domain Containing 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Zona Pellucida-Like Domain Containing 11 2
ZP Domain-Containing Protein 12 3
Zona Pellucida-Like Domain-Containing Protein 12

External Ids:    HGNC: 270221   Entrez Gene: 1313682   Ensembl: ENSG000001700447   UniProtKB: Q8TCW73   

Export aliases for ZPLD1 gene to outside databases

Previous GC identifers: GC03P103637 GC03P103303 GC03P099524


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ZPLD1 Gene:
ZPLD1 (zona pellucida-like domain containing 1) is a protein-coding gene. Diseases associated with ZPLD1 include cavernous malformation, and cerebral cavernous malformation. An important paralog of this gene is TECTB.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ZPLD1 gene promoter:
         SRF   SRF (504 AA)   CUTL1   NF-AT   NF-AT4   NF-AT2   NF-AT3   c-Myb   MRF-2   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZPLD1 promoter sequence
   Search Chromatin IP Primers for ZPLD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ZPLD1


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

Entrez Gene cytogenetic band: 3q12.3   Ensembl cytogenetic band:  3q12.3   HGNC cytogenetic band: 3q12.3

ZPLD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZPLD1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P101818:  view genomic region     (about GC identifiers)

Start:
101,818,088 bp from pter      End:
102,198,685 bp from pter
Size:
380,598 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ZPLD1_HUMAN, Q8TCW7 (See protein sequence)
Recommended Name: Zona pellucida-like domain-containing protein 1 precursor  
Size: 415 amino acids; 45530 Da
Sequence caution: Sequence=EAW79766.1; Type=Erroneous gene model prediction;
Secondary accessions: Q49AS1 Q8WU36
Alternative splicing: 2 isoforms:  Q8TCW7-1   Q8TCW7-2   

Explore the universe of human proteins at neXtProt for ZPLD1: NX_Q8TCW7

Explore proteomics data for ZPLD1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn121, Asn164

  • See ZPLD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_778226.1  
    ENSEMBL proteins: 
     ENSP00000420265   ENSP00000307801   ENSP00000418253  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR001507 ZP_dom

    Graphical View of Domain Structure for InterPro Entry Q8TCW7

    ProtoNet protein and cluster: Q8TCW7

    UniProtKB/Swiss-Prot: ZPLD1_HUMAN, Q8TCW7
    Similarity: Contains 1 ZP domain


    ZPLD1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Phenotypes:
         2 GenomeRNAi human phenotypes for ZPLD1:
     Decreased viability of wild-ty  Synthetic lethal with c-Myc af 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ZPLD1
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    hsa-mir-148b-3p (MIRT019492), hsa-mir-335-5p (MIRT018809)

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    Selected qRT-PCR Assays for microRNAs that regulate ZPLD1 (see all 41):
    hsa-let-7d hsa-miR-3616-5p hsa-miR-301a hsa-miR-519a hsa-miR-507 hsa-miR-1304 hsa-let-7g hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidZPLD1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ZPLD1_HUMAN, Q8TCW7: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular2
    plasma membrane2
    cytosol1
    endoplasmic reticulum1
    lysosome1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    ZPLD1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ZPLD1
    Interactions:

        Search GeneGlobe Interaction Network for ZPLD1

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ZPLD1



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ZPLD1 gene: 
    NM_175056.1  

    Unigene Cluster for ZPLD1:

    Zona pellucida-like domain containing 1
    Hs.352213  [show with all ESTs]
    Unigene Representative Sequence: NM_175056
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000491959 ENST00000478083 ENST00000306176(uc003dvs.1 uc003dvt.1 uc011bhg.1)
    ENST00000466937
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ZPLD1 (see all 41):
    hsa-let-7d hsa-miR-3616-5p hsa-miR-301a hsa-miR-519a hsa-miR-507 hsa-miR-1304 hsa-let-7g hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidZPLD1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ZPLD1
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      QuantiTect SYBR Green Assays in human, mouse, rat ZPLD1
      QuantiFast Probe-based Assays in human, mouse, rat ZPLD1

    Additional mRNA sequence: 

    AY090780.1 BC021279.2 BC031261.1 BC143817.1 

    2 DOTS entries:

    DT.97762039  DT.95241441 

    5 AceView cDNA sequences:

    NM_175056 AY090780 BC021279 BG753756 BC031261 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ZPLD1 expression in normal human tissues (normalized intensities)      ZPLD1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAAAGATGA
    ZPLD1 Expression
    About this image


    ZPLD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
    ZPLD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ZPLD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.352213
        Custom PCR Arrays for ZPLD1
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    QuantiFast Probe-based Assays in human, mouse, rat ZPLD1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZPLD1

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ZPLD1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zpld11 , 5 zona pellucida like domain containing 11, 5 87.63(n)1
    91.57(a)1
      16 (33.65 cM)5
    2398521  NM_178720.41  NP_848835.11 
     552251755 
    chicken
    (Gallus gallus)
    Aves ZPLD11 zona pellucida-like domain containing 1 81.34(n)
    85.41(a)
      418405  XM_004938274.1  XP_004938331.1 
    lizard
    (Anolis carolinensis)
    Reptilia ZPLD16
    zona pellucida-like domain containing 1
    84(a)
    1 ↔ 1
    3(173217178-173305558)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1017320511 zona pellucida-like domain-containing protein 1-like 46.15(n)
    40.21(a)
      101732051  XM_004916514.1  XP_004916571.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zpld1a1 zona pellucida-like domain containing 1a 67.4(n)
    72.44(a)
      560177  XM_001921951.3  XP_001921986.2 


    ENSEMBL Gene Tree for ZPLD1 (if available)
    TreeFam Gene Tree for ZPLD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ZPLD1 gene
    TECTB2  

    ZPLD1 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ZPLD1 (see all 923)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1844661881,2
    --102151919(+) AGATAC/TGCAAT 1 -- us2k10--------
    rs98596401,2
    C,F,A,H--102152138(+) TTTCTG/CTAGTC 1 -- us2k115Minor allele frequency- C:0.41NS EA NA WA CSA 790
    rs1447022211,2
    --102152156(+) CGGGCA/GTGAAT 1 -- us2k10--------
    rs1485309041,2
    --102152205(+) AATTAC/TTTCAG 1 -- us2k10--------
    rs1128656721,2
    F--102152264(+) GCCTAC/TCTCAT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1887793471,2
    --102152277(+) TTAGAA/TAACAC 1 -- us2k10--------
    rs1460954631,2
    --102152280(+) GAAAAC/TACATA 1 -- us2k10--------
    rs622747361,2
    C,F--102152287(+) CATATA/GAAAGT 1 -- us2k13Minor allele frequency- G:0.12NA WA 240
    rs1811561451,2
    --102152313(+) GTACAC/TAGTCA 1 -- us2k10--------
    rs622747371,2
    C,F--102152620(+) CACCCA/GCCTCG 1 -- us2k11Minor allele frequency- G:0.00NA 2

    HapMap Linkage Disequilibrium report for ZPLD1 (101818088 - 102068088 bp, first 250kb of ZPLD1)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ZPLD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv877227CNV Loss21882294

    Human Gene Mutation Database (HGMD): ZPLD1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ZPLD1
    DNA2.0 Custom Variant and Variant Library Synthesis for ZPLD1

    (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.)
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    7 diseases for ZPLD1:    About MalaCards
    cavernous malformation    cerebral cavernous malformation    cerebritis    obesity
    hepatitis b    hepatitis    endotheliitis


    ZPLD1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ZPLD1
    Human Genome Epidemiology (HuGE) Navigator: ZPLD1 (2 documents)

    Export disorders for ZPLD1 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)
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    PubMed articles for ZPLD1 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with ZPLD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. (PubMed id 21490949)1, 4 Sim X....Tai E.S. (PLoS Genet. 2011)
    2. A genome-wide study reveals copy number variants exclusive to childhood obesity cases. (PubMed id 20950786)1, 4 Glessner J.T....Grant S.F. (Am. J. Hum. Genet. 2010)
    3. ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations. (PubMed id 18632209)1, 3 Gianfrancesco F....Squitieri F. (Neuroscience 2008)
    4. Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. (PubMed id 23192594)1 Velez Edwards D.R....Edwards T.L. (Hum. Genet. 2013)
    5. Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy. (PubMed id 23834954)1 Kobayashi D....Fukuda K. (Mol Pain 2013)
    6. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (Genes Immun. 2010)
    7. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
    8. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (BMC Med. Genet. 2007)
    9. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (BMC Med. Genet. 2007)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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)
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    Entrez Gene: 131368 HGNC: 27022 AceView: LOC131368 Ensembl:ENSG00000170044 euGenes: HUgn131368
    ECgene: ZPLD1 H-InvDB: ZPLD1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ZPLD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ZPLD1 gene:
    Search GeneIP for patents involving ZPLD1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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