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

FGGY Gene

protein-coding   GIFtS: 46
GCID: GC01P059762

FGGY carbohydrate kinase domain containing

 Explore 5 diseases affiliated with
FGGY via our new
 Human Malady Compendium 
Biological research products
for FGGY
    

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

Aliases
FGGY Carbohydrate Kinase Domain Containing1 2
FLJ109861
FGGY Carbohydrate Kinase Domain-Containing Protein2
EC 2.7.1.-3
EC 2.7.18

External Ids:    HGNC: 256101   Entrez Gene: 552772   Ensembl: ENSG000001724567   OMIM: 6113705   UniProtKB: Q96C113   

Export aliases for FGGY gene to outside databases

Previous GC identifers: GC01P059535 GC01P057873


(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 FGGY:
This gene encodes a member of the FGGY kinase family which acts as a phosphotransferase. Some GWAS studies have found
an association with amyotrophic lateral sclerosis patients, yet other GWAS studies have not found any association.
(provided by RefSeq, Sep 2011)




(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_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FGGY gene promoter:
         LHX3b/Lhx3b   p53   HNF-4alpha1   S8   POU2F1   POU2F1a   HSF2   Sox9   LHX3a/Lhx3a   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFGGY promoter sequence
   Search SABiosciences Chromatin IP Primers for FGGY

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


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

Entrez Gene cytogenetic band: 1p32.1   Ensembl cytogenetic band:  1p32.1   HGNC cytogenetic band: 1p32.1

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P059762:  view genomic region     (about GC identifiers)

Start:
59,762,310 bp from pter      End:
60,233,347 bp from pter
Size:
471,038 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: FGGY_HUMAN, Q96C11 (See protein sequence)
Recommended Name: FGGY carbohydrate kinase domain-containing protein  
Size: 551 amino acids; 59993 Da
Developmental stage: Expressed in fetal brain (at protein level)
Sequence caution: Sequence=AAH14947.1; Type=Erroneous initiation;
Secondary accessions: B1AK92 B1AK93 B1AK94 B2RDR8 D3DQ56 Q9HA63
Alternative splicing: 5 isoforms:  Q96C11-1   Q96C11-2   Q96C11-4   Q96C11-3   Q96C11-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FGGY: NX_Q96C11

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96C11

  • 4 DME Specific Peptides for FGGY (Q96C11)
     GTGSVRA  GFDATCSLVV  ASLIDAHAGG  WPDFHGNRSPLAD 

    FGGY Protein expression data from MOPED and PaxDb:    About this image 
    FGGY Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001106882.1  NP_001231643.1  NP_060761.3  

    ENSEMBL proteins: 
     ENSP00000463260   ENSP00000406607   ENSP00000360262   ENSP00000305922   ENSP00000403425  
     ENSP00000360256   ENSP00000360254  

    Human Recombinant Protein Products for FGGY: 
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    Uscn Proteins for FGGY

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    FGGY 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

    FGGY for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR018485 Carb_kinase_FGGY_C
     IPR006003 Carb_kinase_FGGY-rel
     IPR018484 Carb_kinase_FGGY_N

    Graphical View of Domain Structure for InterPro Entry Q96C11

    ProtoNet protein and cluster: Q96C11

    UniProtKB/Swiss-Prot: FGGY_HUMAN, Q96C11
    Similarity: Belongs to the FGGY kinase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

         Enzyme Numbers (IUBMB): EC 2.7.1.-1 EC 2.7.12

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0016301kinase activity IEA--
    GO:0016773phosphotransferase activity, alcohol group as acceptor IEA--
         
    FGGY for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Fggy (no phenotypes)

    FGGY for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FGGY 

    miRNA
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    Inhib. RNA
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    In Situ Assay
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    (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 FGGY

    3 Interacting proteins for FGGY (Q96C113) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK1G2P783683I2D: score=2 
    APIPQ96GX93I2D: score=1 
    PSMD13Q9UNM63I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process IEA--
    GO:0008219cell death IEA--
    GO:0070050neuron homeostasis IMP17671248

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

    (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, Sirion Biotech, 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 FGGY gene (3 alternative transcripts): 
    NM_001113411.1  NM_001244714.1  NM_018291.3  

    Unigene Cluster for FGGY:

    FGGY carbohydrate kinase domain containing
    Hs.444301  [show with all ESTs]
    Unigene Representative Sequence: AK090568
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000582567 ENST00000413489 ENST00000474476 ENST00000462744 ENST00000371218(uc009wac.3 uc001czi.4)
    ENST00000495718(uc001czg.2) ENST00000583635 ENST00000303721(uc001czm.4)
    ENST00000430447(uc001czh.2) ENST00000371212(uc001czl.4) ENST00000475949
    ENST00000485720 ENST00000371210 ENST00000493891 ENST00000466791 ENST00000476939
    ENST00000472783 ENST00000471169

    miRNA
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK001848.1 AK022237.1 AK054842.1 AK090568.1 AK315649.1 BC000610.2 BC014947.1 BX647626.1 

    20 DOTS entries:

    DT.437862  DT.95339918  DT.100044268  DT.121326626  DT.95166987  DT.100044405  DT.100772917  DT.100779440 
    DT.100779443  DT.100044403  DT.100739393  DT.100727168  DT.75102673  DT.100779445  DT.100834153  DT.92456033 
    DT.95147933  DT.95166828  DT.95094649  DT.97765991 

    24/142 AceView cDNA sequences (see all 142):

    BQ934625 AU121672 BU149797 AI278286 AK054842 BQ644899 CB138001 CR607394 
    CA311928 AK022237 BC000610 NM_018291 BC014947 BU556699 BC042048 BX382565 
    BQ892439 CR609789 BM726496 BQ440371 BX358874 CR599846 BM855106 BM688624 

    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™, 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

    FGGY expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    FGGY Expression
    About this image
    See FGGY Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FGGY

    SOURCE GeneReport for Unigene cluster: Hs.444301

    UniProtKB/Swiss-Prot: FGGY_HUMAN, Q96C11
    Tissue specificity: Expressed in kidney, lung and small intestine and to a lower extent in liver and detected in
    cerebrospinal fluid (at protein level)

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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 last universal common ancestor (LUCA).

    Orthologs for FGGY gene from 8/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FGGY1 FGGY carbohydrate kinase domain containing 75.91(n)
    77.92(a)
      772383  XM_001235528.1  XP_001235529.1 
    lizard
    (Anolis carolinensis)
    Reptilia FGGY6
    --
    80(a)
    1 ↔ 1
    4(101567651-101630869)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.197402 Transcribed sequence with weak similarity to protein more 73.08(n)    AL923283.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG115941 CG11594 54.79(n)
    50(a)
      38473  NM_168047.1  NP_728919.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YDR109C)4
    YDR109C1
    Putative kinase4
    hypothetical protein1
    49.63(n)1
    43.09(a)1
      4(675667-673520)4
    8516871, 4  NP_010394.31  NP_010394.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G303101 FGGY family of carbohydrate kinase 54.14(n)
    51.03(a)
      829154  NM_119177.4  NP_194760.2 
    rice
    (Oryza sativa)
    Liliopsida AK066421.12   -- 71.8(n)    AK066421.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria araB6
    fucK6
    (see all 4)
    L-fuculokinase
    (see all 4)
    20(a)
    17(a)
    (see all 4)
    1 ↔ 1
    possible ortholog
    (see all 4)
    Chromosome(68348-70048)
    Chromosome(2935460-2936908)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/8151 NCBI SNPs in FGGY are shown (see all 8151    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs753433171,2
    C,F--57871712(+) AAATTA/GTTTTT 2 -- us2k11Minor allele frequency- G:0.04NA 120
    rs66568861,2
    C,F,H--57871835(+) CTCATA/GCAATA 2 -- us2k15Minor allele frequency- G:0.08NS EA WA 536
    rs556804531,2
    C--57871944(+) CATTAG/CGAATC 2 -- us2k12Minor allele frequency- C:0.04WA 120
    rs556435531,2
    C--57872109(+) TCAAGC/TCTAGC 2 -- us2k10--------
    rs767922071,2
    --57872762(+) ATCCTA/GCCTTT 2 -- us2k10--------
    rs1152858671,2
    C,F--57873652(+) TAGCTA/GAAATG 2 -- us2k11Minor allele frequency- G:0.02WA 118
    rs716460321,2
    C--57873828(+) CCCCTG/ACCTCC 2 -- ut511Minor allele frequency- A:0.50NA 2
    rs802738561,2
    C--57873843(+) CCCCTG/TCCTCC 2 -- ut510--------
    rs769980231,2
    F--57873888(+) TGTTCC/TCGAGA 2 -- ut511Minor allele frequency- T:0.21WA 118
    rs1144877401,2
    C,F--57874766(+) AGACCA/CGGAGG 2 -- int11Minor allele frequency- C:0.03WA 118

    HapMap Linkage Disequilibrium report for FGGY (59762310 - 60012310 bp, first 250kb of FGGY)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 12 variations for FGGY
         11 CNVs: 38183 58398 63856 34826 74511 37396 68747 84277 4227 84276 74510
         1 Indel: 63867

    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

    FGGY for disorders           About GeneDecksing

    OMIM gene information: 611370    OMIM disorders: --

    UniProtKB/Swiss-Prot: FGGY_HUMAN, Q96C11
  • Defects in FGGY are associated with sporadic amyotrophic lateral sclerosis (ALS) [MIM:105400]. Amyotrophic
  • lateral sclerosis is a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal
    paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of amyotrophic
    lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors

    5 diseases for FGGY:    About MalaCards
    amyotrophic lateral sclerosis    lateral sclerosis    amyotrophic lateral sclerosis (als)    neuronitis
    alcoholism

    1 disease from the University of Copenhagen DISEASES database for FGGY:
    Amyotrophic lateral sclerosis
    Human Genome Epidemiology (HuGE) Navigator: FGGY (4 documents)

    Export disorders for FGGY 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 FGGY gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with FGGY)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Whole-genome analysis of sporadic amyotrophic lateral sclerosis. (PubMed id 17671248)1, 2, 3 Dunckley T.... Stephan D.A. (2007)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort. (PubMed id 19464757)1 FernA!ndez-Santiago R....Gasser T. (2011)
    4. Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. (PubMed id 21507922)1 Ramsuran V....Ndung'u T. (2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1 Flachsbart F....Nebel A. (2010)
    7. Genomewide association study of movement-related adve rse antipsychotic effects. (PubMed id 19875103)1 Aberg K....van den Oord E.J. (2010)
    8. Analysis of DPP6 and FGGY as candidate genes for amyo trophic lateral sclerosis. (PubMed id 20001489)1 Daoud H....Rouleau G.A. (2009)
    9. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. (PubMed id 19193627)1 ChiA^ A....Traynor B.J. (2009)
    10. Clinical and genetic features of patients with sporad ic amyotrophic lateral sclerosis in south-west China. (PubMed id 19922123)1 Fang D.F....Shang H.F. (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: 55277 HGNC: 25610 AceView: FLJ10986 Ensembl:ENSG00000172456 euGenes: HUgn55277
    ECgene: FGGY H-InvDB: FGGY

    (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 FGGY 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 FGGY gene:
    Search GeneIP for patents involving FGGY

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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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