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

STAP1 Gene

protein-coding   GIFtS: 57
GCID: GC04P068424

signal transducing adaptor family member 1

 Explore 1 disease affiliated with
STAP1 via our new
 Human Malady Compendium 
Biological research products
for STAP1
    

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

Aliases
Signal Transducing Adaptor Family Member 11 2     BCR Downstream-Signaling Protein 12 3
BRDG11 2 3     BCR Downstream Signaling 12
STAP-11 2 3     Signal-Transducing Adaptor Protein 12
Docking Protein BRDG12 3     Signal-Transducing Adaptor Protein-12
Stem Cell Adaptor Protein 12 3     

External Ids:    HGNC: 241331   Entrez Gene: 262282   Ensembl: ENSG000000357207   OMIM: 6042985   UniProtKB: Q9ULZ23   

Export aliases for STAP1 gene to outside databases

Previous GC identifers: GC04P068108 GC04P064337


(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 STAP1:
The protein encoded by this gene functions as a docking protein acting downstream of Tec tyrosine kinase in B cell
antigen receptor signaling. The protein is directly phosphorylated by Tec in vitro where it participates in a postive
feedback loop, increasing Tec activity. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: STAP1_HUMAN, Q9ULZ2
Function: In BCR signaling, appears to function as a docking protein acting downstream of TEC and participates in a
positive feedback loop by increasing the activity of TEC

Gene Wiki entry for STAP1


(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_000004.11  NC_018915.1  NT_022778.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the STAP1 gene promoter:
         HSF1 (long)   FOXD1   STAT5A   HNF-1A   MEF-2A   S8   HNF-1   HSF1short   aMEF-2   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSTAP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for STAP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat STAP1


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

Entrez Gene cytogenetic band: 4q13.2   Ensembl cytogenetic band:  4q13.2   HGNC cytogenetic band: 4q13.2

STAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STAP1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P068424:  view genomic region     (about GC identifiers)

Start:
68,424,446 bp from pter      End:
68,473,055 bp from pter
Size:
48,610 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: STAP1_HUMAN, Q9ULZ2 (See protein sequence)
Recommended Name: Signal-transducing adaptor protein 1  
Size: 295 amino acids; 34291 Da
Subunit: Interacts with KIT and CSF1R (By similarity). Interacts with URI1; the interaction is
phosphorylation-dependent and occurs in a growth-dependent manner
Subcellular location: Nucleus. Cytoplasm. Mitochondrion
2 PDB 3D structures from and Proteopedia for STAP1:
1X1F (3D)        3MAZ (3D)    
Secondary accessions: B2R980

Explore the universe of human proteins at neXtProt for STAP1: NX_Q9ULZ2

Post-translational modifications:

  • Phosphorylated on tyrosine by TEC. Phosphorylated on tyrosine by KIT (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9ULZ2

  • STAP1 Protein expression data from MOPED and PaxDb:    About this image 
    STAP1 Protein Expression
    REFSEQ proteins: NP_036240.1  
    ENSEMBL proteins: 
     ENSP00000265404   ENSP00000379527  

    Human Recombinant Protein Products for STAP1: 
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    ProSpec Recombinant Protein for STAP1
    Uscn Proteins for STAP1

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA17936702
    GO:0005739mitochondrion IDA17936702

    STAP1 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

    STAP1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001849 Pleckstrin_homology
     IPR000980 SH2
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q9ULZ2

    ProtoNet protein and cluster: Q9ULZ2

    2 Blocks protein families:
    IPB000980 SH2 domain signature
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: STAP1_HUMAN, Q9ULZ2
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 SH2 domain


    (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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: STAP1_HUMAN, Q9ULZ2
    Function: In BCR signaling, appears to function as a docking protein acting downstream of TEC and participates in a
    positive feedback loop by increasing the activity of TEC

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005070SH3/SH2 adaptor activity IEA--
    GO:0005515protein binding IPI17936702
    GO:0005543phospholipid binding IEA--
         
    STAP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for STAP1:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for STAP1 

    miRNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STAP1


    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signaling events mediated by Stem cell factor receptor (c-Kit)
    Signaling events mediated by Stem cell factor receptor (c-Kit)1.00
    Kit Receptor Signaling Pathway0.37
    2B Cell Receptor Signaling Pathway
    B Cell Receptor Signaling Pathway1.00


    3 BioSystems Pathways for STAP1 
        B Cell Receptor Signaling Pathway
    Kit Receptor Signaling Pathway
    Signaling events mediated by Stem cell factor receptor (c-Kit)


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for STAP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/13 Interacting proteins for STAP1 (Q9ULZ22, 3 ENSP000002654044) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SH3KBP1Q96B972, 3, ENSP000003809214MINT-8109771 MINT-8109802 MINT-8109784 I2D: score=2 STRING: ENSP00000380921
    KITP107213, ENSP000002881354I2D: score=2 STRING: ENSP00000288135
    URI1O947633, ENSP000003760974I2D: score=2 STRING: ENSP00000376097
    PFDN4Q9NQP43, ENSP000003604734I2D: score=1 STRING: ENSP00000360473
    POLR2EP193883, ENSP000002155874I2D: score=1 STRING: ENSP00000215587
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport TAS10518561
    GO:0006944cellular membrane fusion TAS10518561
    GO:0007165signal transduction TAS10518561
    GO:0007169transmembrane receptor protein tyrosine kinase signaling pathway IEA--

    STAP1 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 STAP1
    Search CenterWatch for drugs/clinical trials and news about STAP1 

    (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 STAP1 gene: 
    NM_012108.2  

    Unigene Cluster for STAP1:

    Signal transducing adaptor family member 1
    Hs.435579  [show with all ESTs]
    Unigene Representative Sequence: NM_012108
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265404(uc003hde.4) ENST00000396225(uc003hdf.3)

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate STAP1:
    hsa-miR-708*
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    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat STAP1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STAP1

    Additional cDNA sequence: 

    AB023483.1 AK313676.1 BC014958.1 

    4 DOTS entries:

    DT.103284  DT.100737067  DT.70105368  DT.92418725 

    24/45 AceView cDNA sequences (see all 45):

    BQ027647 BQ061797 BI261386 BQ065848 AI864505 BC014958 BQ065638 BQ003940 
    AI796408 BU183172 AI289185 BE326685 BG213994 BU166201 BG755532 NM_012108 
    AI627673 BG759723 BG190231 AI799271 BP368621 AA760861 BQ003527 AI241023 

    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

    STAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAATACAATG
    STAP1 Expression
    About this image

    STAP1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeBody Subcutaneous White AdiposeAdipose
    AdiposeThoracic Perivascular AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See STAP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for STAP1

    SOURCE GeneReport for Unigene cluster: Hs.435579
        SABiosciences Custom PCR Arrays for STAP1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STAP1

    (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 STAP1 gene from 2/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves STAP11 signal transducing adaptor family member 1 62.89(n)
    54.72(a)
      428761  XM_426317.3  XP_426317.3 
    zebrafish
    (Danio rerio)
    Actinopterygii stap2b1 signal transducing adaptor family member 2b 48.81(n)
    39.33(a)
      406601  NM_213309.1  NP_998474.1 


    ENSEMBL Gene Tree for STAP1 (if available)
    TreeFam Gene Tree for STAP1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for STAP1 gene
    STAP22  
    1 SIMAP similar gene for STAP1 using alignment to 1 protein entry:     STAP1_HUMAN:
    STAP2

    STAP1 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

    10/940 NCBI SNPs in STAP1 are shown (see all 940    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1892371521,2
    --68422506(+) TGAAGG/TTTGGG 1 -- us2k10--------
    rs1921452041,2
    --68422523(+) GAAGCA/GGGTCT 1 -- us2k10--------
    rs1849884651,2
    --68422656(+) GTTCTA/GCCTCA 1 -- us2k10--------
    rs761564371,2
    --68422671(+) GTAGAC/GAATTT 1 -- us2k12Minor allele frequency- G:0.06CSA WA 120
    rs1898927561,2
    --68422832(+) TTCTAA/CATCTA 1 -- us2k10--------
    rs1139444571,2
    --68422880(+) GTAGAT/AATTCT 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1390660681,2
    --68422884(+) AAATTC/TTTAGG 1 -- us2k10--------
    rs38068101,2
    C,F,H--68422952(-) GTAGCA/GCAGTG 1 -- us2k115Minor allele frequency- G:0.07NS EA WA NA 2334
    rs1861807761,2
    --68422953(+) ACTGTA/GCTACG 1 -- us2k10--------
    rs1118086971,2
    --68423043(+) CACTAG/AATAAC 1 -- us2k12Minor allele frequency- A:0.05CSA WA 120

    HapMap Linkage Disequilibrium report for STAP1 (68424446 - 68473055 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for STAP1: --

    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

    STAP1 for disorders           About GeneDecksing

    OMIM gene information: 604298    OMIM disorders: --

    1 disease for STAP1:    About MalaCards
    parkinson's disease

    Human Genome Epidemiology (HuGE) Navigator: STAP1 (2 documents)

    Export disorders for STAP1 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 STAP1 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with STAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of a docking protein, BRDG1, that acts downstream of the Tec tyrosine kinase. (PubMed id 10518561)1, 2, 3, 9 Ohya K.... Mano H. (1999)
    2. S6K1-mediated disassembly of mitochondrial URI/PP1gamma complexes activates a negative feedback program that counters S6K1 survival signaling. (PubMed id 17936702)1, 2 Djouder N....Krek W. (2007)
    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. Molecular cloning of murine STAP-1, the stem-cell-specific adaptor protein containing PH and SH2 domains. (PubMed id 10679268)1, 3 Masuhara M....Osawa M. (2000)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    7. Blood pressure is regulated by an alpha1D-adrenergic r eceptor/dystrophin signalosome. (PubMed id 18468998)1 Lyssand J.S....Hague C. (2008)
    8. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    9. Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects. (PubMed id 16806233)1 Ma J....Liew C.C. (2007)
    10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 26228 HGNC: 24133 AceView: BRDG1 Ensembl:ENSG00000035720 euGenes: HUgn26228
    ECgene: STAP1 H-InvDB: STAP1

    (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 STAP1 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 STAP1 gene:
    Search GeneIP for patents involving STAP1

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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