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

FOPNL Gene

protein-coding   GIFtS: 44
GCID: GC16M015959

FGFR1OP N-Terminal Like

(Previous name: chromosome 16 open reading frame 63)
(Previous symbol: C16orf63)
  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)
About This Section

Aliases
FGFR1OP N-Terminal Like1 2     PHSECRG22 3
C16orf631 2 3     FGFR1OP N-Terminal-Like Protein2 3
FOP-Related Protein Of 20 KDa1 2 3     Chromosome 16 Open Reading Frame 631
Pluripotent Embryonic Stem Cell-Related Protein1 2     LisH Domain-Containing Protein C16orf632
FOR202 3     LisH Domain-Containing Protein FOPNL2

External Ids:    HGNC: 264351   Entrez Gene: 1238112   Ensembl: ENSG000001333937   UniProtKB: Q96NB13   

Export aliases for FOPNL gene to outside databases


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

GeneCards Summary for FOPNL Gene: 
FOPNL (FGFR1OP N-terminal like) is a protein-coding gene. Diseases associated with FOPNL include microdeletion 15q11.2, and idiopathic generalized epilepsy.

UniProtKB/Swiss-Prot: FOPNL_HUMAN, Q96NB1
Function: Involved in the biogenesis of cilia




(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_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for FOPNL
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 16p13.11   Ensembl cytogenetic band:  16p13.11   HGNC cytogenetic band: 16p13.11

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M015959:  view genomic region     (about GC identifiers)

Start:
15,959,577 bp from pter      End:
15,982,482 bp from pter
Size:
22,906 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: FOPNL_HUMAN, Q96NB1 (See protein sequence)
Recommended Name: LisH domain-containing protein FOPNL  
Size: 174 amino acids; 19778 Da
Subunit: Homooligomer; probably required for localization to centrosomes
Subcellular location: Cell projection, cilium (By similarity). Cytoplasm, cytoskeleton, cilium basal body (By
similarity). Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasmic granule.
Note=Localizes to pericentriolar satellites, small (70-100 nm) cytoplasmic granules associated with the
centrosome

Explore the universe of human proteins at neXtProt for FOPNL: NX_Q96NB1

Explore proteomics data for FOPNL at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96NB1

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

    FOPNL Protein Expression
    REFSEQ proteins: NP_653201.1  
    ENSEMBL proteins: 
     ENSP00000255759   ENSP00000460312   ENSP00000458159   ENSP00000461548   ENSP00000459429  
     ENSP00000460592   ENSP00000459804   ENSP00000461830   ENSP00000458348  

    Human Recombinant Protein Products for FOPNL: 
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    Novus Biologicals FOPNL Protein
    Novus Biologicals FOPNL Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for FOPNL
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005813centrosome IDA--
    GO:0005815microtubule organizing center ----
    GO:0005932microtubule basal body ISS--
    GO:0031514motile cilium ISS--

    FOPNL 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
    2 InterPro protein domains:
     IPR006594 LisH_dimerisation
     IPR018993 FOP_dimerisation-dom_N

    Graphical View of Domain Structure for InterPro Entry Q96NB1

    ProtoNet protein and cluster: Q96NB1

    1 Blocks protein domain: IPB006594 Lissencephaly type-1-like homology motif

    UniProtKB/Swiss-Prot: FOPNL_HUMAN, Q96NB1
    Similarity: Belongs to the FGFR1OP family
    Similarity: Contains 1 LisH domain


    FOPNL 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: FOPNL_HUMAN, Q96NB1
    Function: Involved in the biogenesis of cilia

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

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


    Phenotypes:
         2 GenomeRNAi human phenotypes for FOPNL:
     Decreased viability with pacli  Synthetic lethal with c-Myc af 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidFOPNL 3' UTR sequence
    Inhib. RNA
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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 FOPNL

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for FOPNL (Q96NB13 ENSP000002557594) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCM1Q151543, ENSP000003270774I2D: score=1 STRING: ENSP00000327077
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    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:0034453microtubule anchoring IEA--
    GO:0042384cilium assembly IMP15616553

    FOPNL 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 FOPNL

    Search CenterWatch for drugs/clinical trials and news about FOPNL

    (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 FOPNL gene: 
    NM_144600.2  

    Unigene Cluster for FOPNL:

    FGFR1OP N-terminal like
    Hs.514179  [show with all ESTs]
    Unigene Representative Sequence: AL832498
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000255759(uc002dec.1 uc002ded.1) ENST00000573968 ENST00000573087
    ENST00000573396 ENST00000575744 ENST00000572415 ENST00000575073 ENST00000573429
    ENST00000575938
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    hsa-let-7d hsa-let-7g hsa-let-7a hsa-miR-23a hsa-miR-4324 hsa-miR-98 hsa-miR-3163 hsa-miR-1283
    SwitchGear 3'UTR luciferase reporter plasmidFOPNL 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK055715.1 AK056798.1 AL832498.1 AY507846.1 BC022321.1 

    17 DOTS entries:

    DT.220206  DT.407139  DT.120692409  DT.216317  DT.120692048  DT.97858885  DT.120692368  DT.120692065 
    DT.120692162  DT.120692416  DT.120692818  DT.120691855  DT.100703389  DT.100035977  DT.91760235  DT.100682426 
    DT.120692247 

    24/198 AceView cDNA sequences (see all 198):

    AI289975 AW029069 BX509566 AL710022 AA040230 AI218044 AW027959 BU167036 
    BM788304 F35824 BE439944 AA680378 AI640264 CR626394 AA737455 CR611801 
    BM968446 AA281785 AI399955 R96804 BM988920 BM671689 AW961031 CF272529 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for FOPNL    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e
    SP1:        -     -                                             
    SP2:              -                                             
    SP3:        -     -     -                                       
    SP4:              -     -                                       
    SP5:                          -                                 


    ECgene alternative splicing isoforms for FOPNL

    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.514179

    UniProtKB/Swiss-Prot: FOPNL_HUMAN, Q96NB1
    Tissue specificity: Widely expressed. Detected in brain, heart, kidney, liver, lung, skeletal muscle, placenta and
    intestine

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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 chordates.

    Orthologs for FOPNL gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fopnl1 , 5 RIKEN cDNA 0610037P05 gene5
    Fgfr1op N-terminal like1
    81.7(n)1
    79.77(a)1
      16 (9.74 cM)5
    660861  NM_025345.21  NP_079621.11 
     142992445 
    chicken
    (Gallus gallus)
    Aves FOPNL1 FGFR1OP N-terminal like 65.9(n)
    58.62(a)
      416598  NM_001006170.1  NP_001006170.1 
    lizard
    (Anolis carolinensis)
    Reptilia FOPNL6
    FGFR1OP N-terminal like
    46(a)
    1 ↔ 1
    GL344615.1(15725-20473)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.76112 Xenopus laevis transcribed sequence with weak similarity more 72.8(n)    48030956 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5679441 lisH domain-containing protein C16orf63 homolog 57.98(n)
    61.97(a)
      567944  XM_691258.4  XP_696350.3 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FOPNL gene
    18/26 SIMAP similar genes for FOPNL using alignment to 9 protein entries:     FOPNL_HUMAN (see all proteins) (see all similar genes):
    DCTN5    ZNF737    FKBP3    NPLOC4    ZNF28    DAPL1
    ZNF564    ZNF738    TMEM14B    UTY    GLT8D2    RNF217
    SHANK2    FAM210A    USP10    ZNF468    TMSB15B    CHID1

    FOPNL 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

    10/726 SNPs in FOPNL are shown (see all 726)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs80599471,2
    C--15963154(+) GACTTA/CCTTCT 1 -- int10--------
    rs1384000331,2
    --15992498(+) TGATAC/GACAAA 1 -- ds50010--------
    rs762031461,2
    --15992583(+) CTTCAA/GAAGCC 1 -- ds50010--------
    rs780575361,2
    C,F--15992665(+) TCCCAT/CCCTGT 1 -- ds50011Minor allele frequency- C:0.02WA 118
    rs129312131,2
    C,F--15992707(+) TTCTGT/GAGCAT 1 -- ds500111Minor allele frequency- G:0.15NA WA CSA EA 374
    rs620316801,2
    C,F--15992722(+) AGAAGA/GTAAGT 1 -- ds50014Minor allele frequency- G:0.09NA WA 242
    rs600538231,2
    C--15992753(+) ACCCAC/TGAGTA 1 -- ds50014Minor allele frequency- T:0.14WA NA EA 360
    rs575056861,2
    C--15992770(+) TTAAAT/CATAAC 1 -- ds50014Minor allele frequency- C:0.15WA NA EA 360
    rs1163225421,2
    F--15992865(+) CTCCAC/GCCCTC 1 -- ds50011Minor allele frequency- G:0.01WA 118
    rs2155671,2
    C,F,A--15992871(-) GCTGTT/CGAGGG 1 -- ds50018Minor allele frequency- C:0.29NA WA EA 368

    HapMap Linkage Disequilibrium report for FOPNL (15959577 - 15982482 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for FOPNL (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv435664CNV Deletion17901297
    esv2714015CNV Deletion23290073
    esv2421345CNV Duplication20811451
    nsv833149CNV Loss17160897
    nsv514795CNV Gain21397061
    dgv2614n71CNV Gain21882294
    nsv905402CNV Gain21882294
    nsv471085CNV Gain18288195
    dgv345n27CNV Gain19166990
    nsv457436CNV Gain19166990

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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
    3 diseases for FOPNL:    About MalaCards
    microdeletion 15q11.2    idiopathic generalized epilepsy    lissencephaly


    FOPNL for disorders           About GeneDecksing


    Export disorders for FOPNL 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 FOPNL gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with FOPNL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Control of ciliogenesis by FOR20, a novel centrosome and pericentriolar satellite protein. (PubMed id 20551181)1, 2 Sedjai F.... Rosnet O. (2010)
    2. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (2004)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. 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)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Recurrent microdeletions at 15q11.2 and 16p13.11 pred ispose to idiopathic generalized epilepsies. (PubMed id 19843651)1 de Kovel C.G....Sander T. (2010)
    8. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    9. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
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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: 123811 HGNC: 26435 AceView: FLJ31153 Ensembl:ENSG00000133393 euGenes: HUgn123811
    ECgene: FOPNL H-InvDB: FOPNL

    (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 FOPNL 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 FOPNL gene:
    Search GeneIP for patents involving FOPNL

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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