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

SLC25A40 Gene

protein-coding   GIFtS: 46
GCID: GC07M087462

solute carrier family 25, member 40

 Explore 5 diseases affiliated with
SLC25A40 via our new
 Human Malady Compendium 
Biological research products
for SLC25A40
    

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

Aliases
Solute Carrier Family 25, Member 401 2
MCFP1 2 3
Mitochondrial Carrier Family Protein2 3
Solute Carrier Family 25 Member 402

External Ids:    HGNC: 296801   Entrez Gene: 559722   Ensembl: ENSG000000753037   OMIM: 6108215   UniProtKB: Q8TBP63   

Export aliases for SLC25A40 gene to outside databases

Previous GC identifers: GC07M087304 GC07M082073


(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 SLC25A40:
SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 (PubMed
16949250)).(supplied by OMIM, Mar 2008)




(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_000007.13  NC_018918.1  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC25A40 gene promoter:
         AP-1   POU3F1   Evi-1   YY1   GATA-1   CREB   POU2F1a   deltaCREB   POU2F1b   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC25A40 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC25A40

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC25A40


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

Entrez Gene cytogenetic band: 7q21.12   Ensembl cytogenetic band:  7q21.12   HGNC cytogenetic band: 7q21.12

SLC25A40 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A40 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M087462:  view genomic region     (about GC identifiers)

Start:
87,462,883 bp from pter      End:
87,505,692 bp from pter
Size:
42,810 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 86,795,132-86,837,010     

(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: S2540_HUMAN, Q8TBP6 (See protein sequence)
Recommended Name: Solute carrier family 25 member 40  
Size: 338 amino acids; 38125 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: A8K483 D6W5P6 Q53GB1 Q9UHR1

Explore the universe of human proteins at neXtProt for SLC25A40: NX_Q8TBP6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TBP6

  • SLC25A40 Protein expression data from MOPED and PaxDb:    About this image 
    SLC25A40 Protein Expression
    REFSEQ proteins: NP_061331.2  
    ENSEMBL proteins: 
     ENSP00000344831   ENSP00000401473   ENSP00000405566   ENSP00000407780  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SLC25A40

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane IEA--
    GO:0016021integral to membrane IEA--

    SLC25A40 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

    SLC25A40 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR002067 Mit_carrier
     IPR023395 Mt_carrier_dom
     IPR018108 Mitochondrial_sb/sol_carrier

    Graphical View of Domain Structure for InterPro Entry Q8TBP6

    ProtoNet protein and cluster: Q8TBP6

    UniProtKB/Swiss-Prot: S2540_HUMAN, Q8TBP6
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 3 Solcar repeats


    (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

    Phenotypes:
         1 GenomeRNAi human phenotype for SLC25A40:
     Increased cell number in G1, a 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Slc25a40):
     normal 

    SLC25A40 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SLC25A40 

    miRNA
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    miRTarBase miRNAs that target SLC25A40:
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    SwitchGear 3'UTR luciferase reporter plasmidSLC25A40 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A40


    (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 SLC25A40

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0055085transmembrane transport IEA--

    SLC25A40 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 SLC25A40
    Search CenterWatch for drugs/clinical trials and news about SLC25A40 / S2540 

    (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 SLC25A40 gene: 
    NM_018843.3  

    Unigene Cluster for SLC25A40:

    Solute carrier family 25, member 40
    Hs.208414  [show with all ESTs]
    Unigene Representative Sequence: NM_018843
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000341119(uc003uje.3) ENST00000446236 ENST00000496348 ENST00000429674
    ENST00000470328 ENST00000483810 ENST00000444363 ENST00000491499

    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC25A40:
    hsa-miR-23b hsa-miR-130a* hsa-miR-494 hsa-miR-23a hsa-miR-23c hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A40 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC25A40 (see all 7)
    OriGene shRNA RFP: SLC25A40
    OriGene siRNA: SLC25A40
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    Sirion Biotech Custom design and validation of potent shRNA sequences against SLC25A40 
    Clone
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    Additional cDNA sequence: 

    AF125531.1 AK223020.1 AK290848.1 AL110179.1 BC027322.1 

    10 DOTS entries:

    DT.100778051  DT.100775582  DT.100817855  DT.455675  DT.121067462  DT.100778050  DT.121067472  DT.91869657 
    DT.102831892  DT.91665718 

    24/94 AceView cDNA sequences (see all 94):

    BM468921 BQ008206 BX393358 AW057637 AA721105 BM728631 AA912979 BX412894 
    BM795223 CD723698 AA465188 CR610506 AI037919 CR609204 AA411016 AA465546 
    CA309341 AI867011 AA401605 AA566144 BF109962 AL080033 AW440440 BX509288 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A40    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b
    SP1:                    -                                               -                     
    SP2:                    -                                                                     
    SP3:                                                        -           -                     
    SP4:                                                                                          


    ECgene alternative splicing isoforms for SLC25A40

    (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

    SLC25A40 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACACAAAAGT
    SLC25A40 Expression
    About this image
    See SLC25A40 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC25A40

    SOURCE GeneReport for Unigene cluster: Hs.208414
        SABiosciences Custom PCR Arrays for SLC25A40

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A40

    (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 eukaryotes.

    Orthologs for SLC25A40 gene from 8/32 species (see all 32)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SLC25A401 solute carrier family 25, member 40 68.97(n)
    61.26(a)
      772037  XM_001235237.2  XP_001235238.2 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia MGC761232 hypothetical protein MGC76123 74.47(n)    BC064218.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc25a401 solute carrier family 25, member 40 63.58(n)
    66.36(a)
      436633  NM_001002360.1  NP_001002360.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Shawn6
    CG26166
    (see all 3)
    --
    40(a)
    33(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    X(19505559-19509650)
    3R(3548139-3550140)
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_C16C10.11 Protein C16C10.1 54.36(n)
    51.1(a)
      175537  NM_065435.3  NP_497836.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MTM11 Mtm1p 50.16(n)
    38.98(a)
      853173   NP_011773.3 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G463206
    MTM16
    manganese tracking factor for mitochondrial SOD2
    28(a)
    24(a)
    many ↔ many
    many ↔ many
    2(19015813-19018491)
    4(13904474-13907245)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    mitochondrial carrier protein, putative, expressed...
    mitochondrial carrier protein, putative, expressed...
    28(a)
    24(a)
    many ↔ many
    many ↔ many
    1(6836120-6840269)
    8(18249284-18254852)


    ENSEMBL Gene Tree for SLC25A40 (if available)
    TreeFam Gene Tree for SLC25A40 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC25A40 gene
    SLC25A392  
    1 SIMAP similar gene for SLC25A40 using alignment to 3 protein entries:     S2540_HUMAN (see all proteins):
    SLC25A39

    SLC25A40 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

    10/569 NCBI SNPs in SLC25A40 are shown (see all 569    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1809687351,2
    --87463805(+) AAACGA/CCTAGG 1 -- int10--------
    rs1121041901,2
    --87463833(+) CTTACC/TTTATT 1 -- ut311Minor allele frequency- T:0.50CSA 2
    rs1903048001,2
    --87464129(+) AAAACA/GTTTTA 1 -- ut310--------
    rs1816337481,2
    --87464187(+) AAATTC/TAAGGT 1 -- ut310--------
    rs21888311,2
    C,F,H--87464272(-) TAGTAG/AGAAAG 1 -- ut3110Minor allele frequency- A:0.03NA EA NS 921
    rs1476365441,2
    --87464380(+) ATAAAC/GACTGC 1 -- ut310--------
    rs733938221,2
    C--87464408(+) AAAAAT/AATATA 1 -- ut312Minor allele frequency- A:0.03WA EA 122
    rs1419877301,2
    --87464668(+) GCAATA/CATCTG 1 -- ut310--------
    rs1457901291,2
    --87464794(+) TCTAAA/GTACTA 1 -- ut310--------
    rs171499411,2
    C--87464844(+) ACATTT/CGCTAC 1 -- ut313Minor allele frequency- C:0.01NA 142

    HapMap Linkage Disequilibrium report for SLC25A40 (87462883 - 87505692 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLC25A40: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC25A40
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A40

    (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

    SLC25A40 for disorders           About GeneDecksing

    OMIM gene information: 610821    OMIM disorders: --

    5 diseases for SLC25A40:    About MalaCards
    cerebrovascular accident    sideroblastic anemia    optic atrophy    anemia
    malaria

    1 disease from the University of Copenhagen DISEASES database for SLC25A40:
    Sideroblastic anemia
    Human Genome Epidemiology (HuGE) Navigator: SLC25A40 (1 document)

    Export disorders for SLC25A40 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 SLC25A40 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SLC25A40)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. (PubMed id 16949250)1, 2, 3 Haitina T.... Fredriksson R. (2006)
    2. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    4. 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)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    7. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (2003)
    8. 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)
    9. 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)
    10. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (1994)

    (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: 55972 HGNC: 29680 AceView: MCFP Ensembl:ENSG00000075303 euGenes: HUgn55972
    ECgene: SLC25A40 H-InvDB: SLC25A40

    (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 SLC25A40 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 SLC25A40 gene:
    Search GeneIP for patents involving SLC25A40

    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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