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ENSG00000232045 Gene

protein-coding   GIFtS: 17
GCID: GC06Mi31858          (predicted)

ENSG00000232045


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(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
BAT83     Euchromatic Histone-Lysine N-Methyltransferase 23
C6orf303     H3-K9-HMTase 33
EC 2.1.1.-3     Histone H3-K9 Methyltransferase 33
EC 2.1.1.433     HLA-B-Associated Transcript 83
G9A3     Lysine N-Methyltransferase 1C3
KMT1C3     Protein G9a3
NG363     

External Ids:    Ensembl: ENSG000002320457   UniProtKB: Q96KQ73   

Export aliases for ENSG00000232045 gene to outside databases

Previous GC identifer: GC06M8G1858


(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 ENSG00000232045 Gene:
ENSG00000232045 is a protein-coding gene.

UniProtKB/Swiss-Prot: EHMT2_HUMAN, Q96KQ7
Function: Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and
H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression
by recruiting HP1 proteins to methylated histones. Also mediates monomethylation of 'Lys-56' of histone H3
(H3K56me1) in G1 phase, leading to promote interaction between histone H3 and PCNA and regulating DNA
replication. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the
histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities
function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX
and/or DP1. May also methylate histone H1. In addition to the histone methyltransferase activity, also methylates
non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53. Also methylates CDYL, WIZ, ACIN1, DNMT1,
HDAC1, ERCC6, KLF12 and itself




(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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Regulatory elements:
   Search for regulatory transcription factor binding sites for ENSG00000232045
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ENSG00000232045


Genomic Location:
Chromosome:6   

Ensembl cytogenetic band:  HSCHR6_MHC_APDp21.33   

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06Mi31858:       (about GC identifiers)

Start:
31,858,893 bp from start of contig ALT_REF_LOCI_1      End:
31,876,828 bp from start of contig ALT_REF_LOCI_1
Size:
17,936 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: EHMT2_HUMAN, Q96KQ7 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase EHMT2  
Size: 1210 amino acids; 132370 Da
Subunit: Heterodimer; heterodimerizes with EHMT1/GLP. Interacts with GFI1B and WIZ. Part of the E2F6.com-1 complex
in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EHMT1, RING1, RNF2, MBLR, L3MBTL2 and YAF2. Part of a
complex composed of TRIM28, HDAC1, HDAC2 and EHMT2. Interacts with UHRF1. Interacts with CDYL. Interacts with
REST only in the presence of CDYL. Part of a complex containing at least CDYL, REST, WIZ, SETB1, EHMT1 and EHMT2
Caution: While NG36 and G9a were originally thought to derive from 2 separate genes, all G9A transcripts also
contain the in frame coding sequence of NG36 (PubMed:11707778)
Caution: It is uncertain whether Met-1 or Met-21 is the initiator methionine
Sequence caution: Sequence=AAD21811.1; Type=Erroneous gene model prediction; Sequence=AAD21812.1; Type=Erroneous
gene model prediction; Sequence=AAH02686.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAH09351.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH18718.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH20970.2; Type=Erroneous
initiation; Note=Translation N-terminally shortened; Sequence=BAB63294.1; Type=Erroneous gene model prediction;
Sequence=BAB63295.1; Type=Erroneous gene model prediction; Sequence=CAA49491.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
5 PDB 3D structures from and Proteopedia for ENSG00000232045:
2O8J (3D)        3DM1 (3D)        3K5K (3D)        3RJW (3D)        4NVQ (3D)    
Secondary accessions: B0UZY2 Q14349 Q5JP83 Q5JQ92 Q5JQA1 Q5JQG3 Q6PK06 Q96MH5 Q96QD0 Q9UQL8
Q9Y331
Alternative splicing: 3 isoforms:  Q96KQ7-1   Q96KQ7-2   Q96KQ7-3   

Explore the universe of human proteins at neXtProt for ENSG00000232045: NX_Q96KQ7

Explore proteomics data for ENSG00000232045 at MOPED

Post-translational modifications: 

  • Methylated at Lys-185; automethylated1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ENSG00000232045 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


    ENSEMBL proteins: 
     ENSP00000408583   ENSP00000401012   ENSP00000401424   ENSP00000416957   ENSP00000408266  
     ENSP00000446676  
    Reactome Protein details: Q96KQ7

    ENSG00000232045 Human Recombinant Protein Products:

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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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    Selected InterPro protein domains (see all 6):
     IPR001214 SET_dom
     IPR003616 Post-SET_dom
     IPR020683 Ankyrin_rpt-contain_dom
     IPR003606 Pre-SET_Zn-bd_sub
     IPR007728 Pre-SET_dom

    Graphical View of Domain Structure for InterPro Entry Q96KQ7

    ProtoNet protein and cluster: Q96KQ7

    4 Blocks protein domains:
    IPB001214 Nuclear protein SET
    IPB002110 Ankyrin repeat signature
    IPB003606 Nuclear protein Zn2+-binding
    IPB003616 SET-related region


    UniProtKB/Swiss-Prot: EHMT2_HUMAN, Q96KQ7
    Domain: The SET domain mediates interaction with WIZ
    Domain: The ANK repeats bind H3K9me1 and H3K9me2
    Similarity: Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine
    methyltransferase family. Suvar3-9 subfamily
    Similarity: Contains 7 ANK repeats
    Similarity: Contains 1 post-SET domain
    Similarity: Contains 1 pre-SET domain
    Similarity: Contains 1 SET domain


    Find genes that share domains with ENSG00000232045           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EHMT2_HUMAN, Q96KQ7
    Function: Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and
    H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression
    by recruiting HP1 proteins to methylated histones. Also mediates monomethylation of 'Lys-56' of histone H3
    (H3K56me1) in G1 phase, leading to promote interaction between histone H3 and PCNA and regulating DNA
    replication. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the
    histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities
    function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX
    and/or DP1. May also methylate histone H1. In addition to the histone methyltransferase activity, also methylates
    non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53. Also methylates CDYL, WIZ, ACIN1, DNMT1,
    HDAC1, ERCC6, KLF12 and itself
    Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +
    N(6)-methyl-L-lysine-[histone]

         Enzyme Numbers (IUBMB): EC 2.1.1.431 EC 2.1.1.-1

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002039p53 binding ----
    GO:0005515protein binding ----
    GO:0008270zinc ion binding ----
    GO:0016279protein-lysine N-methyltransferase activity ----
    GO:0018024histone-lysine N-methyltransferase activity ----
         
    Find genes that share ontologies with ENSG00000232045           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ENSG00000232045

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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
    EHMT2_HUMAN, Q96KQ7: Nucleus. Chromosome. Note=Associates with euchromatic regions. Does not associate with
    heterochromatin

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005694chromosome ----

    Find genes that share ontologies with ENSG00000232045           About GenesLikeMe


    (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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    Find genes that share SuperPaths with ENSG00000232045           About GenesLikeMe

    Pathways by sourceSee SuperPaths
    Show all pathways


    2 Reactome Pathways for ENSG00000232045
        Senescence-Associated Secretory Phenotype (SASP)
    RNA Polymerase I Transcription Initiation


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ENSG00000232045
    Interactions:

        Search GeneGlobe Interaction Network for ENSG00000232045

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for ENSG00000232045 (Q96KQ71, 2, 3 ENSP000004085834) via UniProtKB, MINT, STRING, and/or I2D (see all 109)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313I2D: score=1 
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ----
    GO:0006275regulation of DNA replication ----
    GO:0006306DNA methylation ----
    GO:0007130synaptonemal complex assembly ----
    GO:0007286spermatid development ----

    Find genes that share ontologies with ENSG00000232045           About GenesLikeMe



    (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 Tocris compounds for ENSG00000232045 (EHMT2)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000495638 ENST00000495740 ENST00000488695(uc011eot.2) ENST00000498185(uc011eou.2)
    ENST00000415323 ENST00000450323(uc011eov.2) ENST00000440987 ENST00000421926(uc011eow.2 uc011eox.2)
    ENST00000448415 ENST00000488847 ENST00000466439 ENST00000476424(uc011eoy.1)
    ENST00000551865
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    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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    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --

    ENSG00000232045 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ENSG00000232045 Protein Expression

    UniProtKB/Swiss-Prot: EHMT2_HUMAN, Q96KQ7
    Tissue specificity: Expressed in all tissues examined, with high levels in fetal liver, thymus, lymph node, spleen
    and peripheral blood leukocytes and lower level in bone marrow

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    In Situ
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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)
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    ENSEMBL Gene Tree for ENSG00000232045 (if available)
    TreeFam Gene Tree for ENSG00000232045 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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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    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for ENSG00000232045

    (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.)
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      --

    (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 ENSG00000232045 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with ENSG00000232045)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Histone H3 lysine 56 methylation regulates DNA replication through its interaction with PCNA. (PubMed id 22387026)2 Yu Y.... Grunstein M. (Mol. Cell 2012)
    2. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    3. Maintenance of silent chromatin through replication requires SWI/SNF- like chromatin remodeler SMARCAD1. (PubMed id 21549307)2 Rowbotham S.P.... Mermoud J.E. (Mol. Cell 2011)
    4. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    5. G9a and Glp methylate lysine 373 in the tumor suppressor p53. (PubMed id 20118233)2 Huang J.... Berger S.L. (J. Biol. Chem. 2010)
    6. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    7. Structural biology of human H3K9 methyltransferases. (PubMed id 20084102)2 Wu H.... Schapira M. (PLoS ONE 2010)
    8. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
    9. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    10. UHRF1 binds G9a and participates in p21 transcriptional regulation in mammalian cells. (PubMed id 19056828)2 Kim J.K.... Pradhan S. (Nucleic Acids Res. 2009)

    (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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    Ensembl:ENSG00000232045

    (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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      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ENSG00000232045 gene:
    Search GeneIP for patents involving ENSG00000232045

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    (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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
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     Browse ESI BIO Cell Lines and PureStem Progenitors for ENSG00000232045
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     Search Addgene for plasmids for ENSG00000232045
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      Search antibodies-online for antibodies for ENSG00000232045
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      Search antibodies-online for proteins for ENSG00000232045
           
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