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

ISCA2 Gene

protein-coding   GIFtS: 47
GCID: GC14P074960

iron-sulfur cluster assembly 2 homolog (S. cerevisiae)

(Previous name: HesB like domain containing 1 )
(Previous symbol: HBLD1)
 Explore 4 diseases affiliated with
ISCA2 via our new
 Human Malady Compendium 
Biological research products
for ISCA2
    

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

Aliases
Iron-Sulfur Cluster Assembly 2 Homolog (S. Cerevisiae)1 2     HesB Like Domain Containing 11
HBLD11 2 3     C14_55571
ISA21 2     Iron-Sulfur Cluster Assembly 2 Homolog, Mitochondrial2
HESB-Like Domain-Containing Protein 12 3     

External Ids:    HGNC: 198571   Entrez Gene: 1229612   Ensembl: ENSG000001658987   UniProtKB: Q86U283   

Export aliases for ISCA2 gene to outside databases

Previous GC identifers: GC14P074031 GC14P055128


(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 ISCA2:
The protein encoded by this gene is an A-type iron-sulfur cluster (ISC) protein found in mitochondria. The encoded
protein appears to be involved in the maturation of mitochondrial iron-sulfur proteins. Two transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, Dec 2012)

UniProtKB/Swiss-Prot: ISCA2_HUMAN, Q86U28
Function: Involved in the assembly of mitochondrial iron-sulfur proteins. Probably involved in the binding of an
intermediate of Fe/S cluster assembly (By similarity)




(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_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ISCA2 gene promoter:
         GR   Elk-1   AP-1   NRSF form 1   HTF   NRSF form 2   POU2F1   FOXO4   POU2F1a   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidISCA2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ISCA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ISCA2


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

Entrez Gene cytogenetic band: 14q24.3   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24.2

ISCA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ISCA2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P074960:  view genomic region     (about GC identifiers)

Start:
74,960,423 bp from pter      End:
74,963,809 bp from pter
Size:
3,387 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: ISCA2_HUMAN, Q86U28 (See protein sequence)
Recommended Name: Iron-sulfur cluster assembly 2 homolog, mitochondrial precursor  
Size: 154 amino acids; 16476 Da
Subcellular location: Mitochondrion (By similarity)
Sequence caution: Sequence=CAD62580.1; Type=Erroneous initiation;
Secondary accessions: A6NFF1 A8K3W3 Q8IYZ0 Q96BB2

Explore the universe of human proteins at neXtProt for ISCA2: NX_Q86U28

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86U28

  • ISCA2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001258936.1  NP_919255.2  

    ENSEMBL proteins: 
     ENSP00000452007   ENSP00000298818   ENSP00000450523  

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    Novus Biologicals ISCA2 Protein
    Novus Biologicals ISCA2 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ISCA2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--


    ISCA2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ISCA2


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ISCA2 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR016092 FeS_cluster_insertion
     IPR017870 FeS_cluster_insertion_CS
     IPR000361 FeS_biogenesis

    Graphical View of Domain Structure for InterPro Entry Q86U28

    ProtoNet protein and cluster: Q86U28

    1 Blocks protein family: IPB000361 Protein of unknown function

    UniProtKB/Swiss-Prot: ISCA2_HUMAN, Q86U28
    Similarity: Belongs to the HesB/IscA family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ISCA2_HUMAN, Q86U28
    Function: Involved in the assembly of mitochondrial iron-sulfur proteins. Probably involved in the binding of an
    intermediate of Fe/S cluster assembly (By similarity)

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    hsa-miR-23b hsa-miR-130a* hsa-miR-23a hsa-miR-23c hsa-miR-646
    SwitchGear 3'UTR luciferase reporter plasmidISCA2 3' UTR sequence
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0046872metal ion binding IEA--
    GO:0051536iron-sulfur cluster binding IEA--


    ISCA2 for ontologies           About GeneDecksing



    (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 ISCA2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for ISCA2 (Q86U283 ENSP000002988184) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C12orf4Q9NQ893I2D: score=5 
    GLRX5ENSP000003285704STRING: ENSP00000328570
    RPS6ENSP000003697574STRING: ENSP00000369757
    RPL37ENSP000002742424STRING: ENSP00000274242
    --ENSP000003100754STRING: ENSP00000310075
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016226iron-sulfur cluster assembly IEA--


    ISCA2 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 ISCA2

    1 HMDB Compound for ISCA2    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--
    Search CenterWatch for drugs/clinical trials and news about ISCA2 

    (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, 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 ISCA2 gene (2 alternative transcripts): 
    NM_001272007.1  NM_194279.3  

    Unigene Cluster for ISCA2:

    Iron-sulfur cluster assembly 2 homolog (S. cerevisiae)
    Hs.291079  [show with all ESTs]
    Unigene Representative Sequence: BQ224801
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000556816(uc001xpz.2) ENST00000298818 ENST00000554924 ENST00000555139


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    hsa-miR-23b hsa-miR-130a* hsa-miR-23a hsa-miR-23c hsa-miR-646
    SwitchGear 3'UTR luciferase reporter plasmidISCA2 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AK290728.1 BC015771.1 BC032893.2 BX248252.1 

    7 DOTS entries:

    DT.100032518  DT.100794204  DT.313533  DT.97780846  DT.100835373  DT.120749213  DT.86842811 

    24/136 AceView cDNA sequences (see all 136):

    BU846230 AI146474 BX248252 BQ917404 AI337254 BM990811 BQ017457 BM919603 
    AW779083 BQ011674 AW960308 BM761557 CD675798 AI218065 AI301334 BU631516 
    CD671525 AI080185 AI797561 AI610282 AI218909 CB114594 AI199880 BU630812 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for ISCA2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
    SP1:                                    
    SP2:                                    


    ECgene alternative splicing isoforms for ISCA2

    (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

    ISCA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCTCTAAAAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ISCA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ISCA2

    SOURCE GeneReport for Unigene cluster: Hs.291079
        SABiosciences Custom PCR Arrays for ISCA2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ISCA2

    (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 ISCA2 gene from 9/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Isca21 , 5 iron-sulfur cluster assembly 2 homolog (S. cerevisiae)1, 5 85.71(n)1
    83.77(a)1
      12 (39.38 cM)5
    743161  NM_028863.11  NP_083139.11 
     847732705 
    chicken
    (Gallus gallus)
    Aves ISCA21 iron-sulfur cluster assembly 2 homolog (S. cerevisiae) 68.44(n)
    70.67(a)
      423352  XM_421267.3  XP_421267.3 
    lizard
    (Anolis carolinensis)
    Reptilia ISCA26
    --
    75(a)
    1 ↔ 1
    1(23153508-23155515)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1001504381 similar to Iron-sulfur cluster assembly 2 homolog, more 66.98(n)
    68.52(a)
      100150438  XM_001922476.1  XP_001922511.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG136231 CG13623 57.14(n)
    53.78(a)
      42926  NM_143010.2  NP_651267.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y54G11A.91 Protein Y54G11A.9 55.2(n)
    50.4(a)
      175088  NM_064580.2  NP_496981.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G039051 Iron-sulfur assembly protein IscA-like 2 48.81(n)
    51.43(a)
      830270  NM_120472.3  NP_568130.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g03697001 hypothetical protein 53.76(n)
    54.03(a)
      4345405  NM_001068193.2  NP_001061658.2 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria erpA6
    iron-sulfur cluster insertion protein
    37(a)
    1 ↔ 1
    Chromosome(176610-176954)


    ENSEMBL Gene Tree for ISCA2 (if available)
    TreeFam Gene Tree for ISCA2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ISCA2 gene
    1 SIMAP similar gene for ISCA2 using alignment to 3 protein entries:     ISCA2_HUMAN (see all proteins):
    ISCA1

    ISCA2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ISCA2
    PGOHUM00000246300


    (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

    8 NCBI SNPs in ISCA2 are shown     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1840104371,2
    --74962174(+) CACCCA/TGCCAG 1 -- ut310--------
    rs49032311,2
    C,F,A,H,--74962233(+) TTCCTA/GTTTGA 1 -- ut3128Minor allele frequency- G:0.40NA NS EA WA CSA 2495
    rs1871945211,2
    --74962267(+) ATGCTC/TGTGGA 1 -- ut310--------
    rs111590861,2
    C,F,A,H,--74962275(+) GGATCT/CGCTAT 1 -- ds500127Minor allele frequency- C:0.24NA NS EA CSA WA 2909
    rs1913254231,2
    --74962341(+) TAGTGA/CATTAT 1 -- ds50010--------
    rs1428271331,2
    --74962501(+) ATAGGC/TAATAG 1 -- ds50010--------
    rs37597451,2
    C,F,A,H,--74962670(-) GGTCAG/ACAAAT 1 -- ds500120Minor allele frequency- A:0.24NS EA NA CSA WA 2340
    rs1837172441,2
    --74962748(+) TGTGTA/GGGTGT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for ISCA2 (74960423 - 74963809 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ISCA2: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ISCA2
    DNA2.0 Custom Variant and Variant Library Synthesis for ISCA2

    (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

    ISCA2 for disorders           About GeneDecksing

    4 diseases for ISCA2:    About MalaCards
    hemophilia    tuberculosis    malaria    mycobacterium tuberculosis

    Human Genome Epidemiology (HuGE) Navigator: ISCA2 (4 documents)

    Export disorders for ISCA2 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 ISCA2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ISCA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. The human mitochondrial ISCA1, ISCA2, and IBA57 protei ns are required for [4Fe-4S] protein maturation. (PubMed id 22323289)1 Sheftel A.D....Lill R. (2012)
    3. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
    6. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    8. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)2 Heilig R.... Weissenbach J. (2003)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (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: 122961 HGNC: 19857 AceView: HBLD1 Ensembl:ENSG00000165898 euGenes: HUgn122961
    ECgene: ISCA2 H-InvDB: ISCA2

    (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 ISCA2 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 ISCA2 gene:
    Search GeneIP for patents involving ISCA2

    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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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