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

VPS37D Gene

protein-coding   GIFtS: 49
GCID: GC07P073082

vacuolar protein sorting 37 homolog D (S. cerevisiae)

(Previous names: Williams Beuren syndrome chromosome region 24, vacuolar...)
(Previous symbol: WBSCR24)
 Explore 1 disease affiliated with
VPS37D via our new
 Human Malady Compendium 
Biological research products
for VPS37D
    

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

Aliases
Vacuolar Protein Sorting 37 Homolog D (S. Cerevisiae)1 2     Vacuolar Protein Sorting 37D (Yeast)1
WBSCR241 2 3 5     Vacuolar Protein Sorting 37D2
Williams Beuren Syndrome Chromosome Region 241 2     Vacuolar Protein Sorting-Associated Protein 37D2
Williams-Beuren Syndrome Chromosomal Region 24 Protein2 3     Williams-Beuren Syndrome Critical Region Protein 242
ESCRT-I Complex Subunit VPS37D2 3     Williams-Beuren Syndrome Region Protein 242
MGC353521     

External Ids:    HGNC: 182871   Entrez Gene: 1553822   Ensembl: ENSG000001764287   OMIM: 6100395   UniProtKB: Q86XT23   

Export aliases for VPS37D gene to outside databases

Previous GC identifers: GC07P072507 GC07P072700 GC07P068964


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: VP37D_HUMAN, Q86XT2
Function: Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of
endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation




(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_079593.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for VPS37D
         Other transcription factors

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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VPS37D


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

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

VPS37D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VPS37D gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P073082:  view genomic region     (about GC identifiers)

Start:
73,082,155 bp from pter      End:
73,086,442 bp from pter
Size:
4,288 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 72,415,246-72,419,512     

(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: VP37D_HUMAN, Q86XT2 (See protein sequence)
Recommended Name: Vacuolar protein sorting-associated protein 37D  
Size: 251 amino acids; 27730 Da
Subunit: Component of the ESCRT-I complex (endosomal sorting complex required for transport I) which consists of
TSG101, VPS28, a VPS37 protein (VPS37A to -D) and MVB12A or MVB12B in a 1:1:1:1 stoechiometry. Interacts with TSG101
and MVB12A
Subcellular location: Late endosome membrane; Peripheral membrane protein (Probable)
Sequence caution: Sequence=AAL91075.1; Type=Erroneous initiation;
Secondary accessions: Q6P2C3

Explore the universe of human proteins at neXtProt for VPS37D: NX_Q86XT2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86XT2

  • VPS37D Protein expression data from MOPED and PaxDb:    About this image 
    VPS37D Protein Expression
    REFSEQ proteins: NP_001071089.1  
    ENSEMBL proteins: 
     ENSP00000320416   ENSP00000413337  
    Reactome Protein details: Q86XT2
    Human Recombinant Protein Products for VPS37D: 
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    Uscn Proteins for VPS37D

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010008endosome membrane TAS--
    GO:0031902late endosome membrane IEA--

    VPS37D 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

    VPS37D for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR009851 Mod_r

    Graphical View of Domain Structure for InterPro Entry Q86XT2

    ProtoNet protein and cluster: Q86XT2

    UniProtKB/Swiss-Prot: VP37D_HUMAN, Q86XT2
    Similarity: Belongs to the VPS37 family
    Similarity: Contains 1 VPS37 C-terminal 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: VP37D_HUMAN, Q86XT2
    Function: Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of
    endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation

    Phenotypes:
         1 GenomeRNAi human phenotype for VPS37D:

     Decreased viability of wild-ty 

    Animal Models:
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    hsa-miR-194* hsa-miR-765 hsa-miR-449a hsa-miR-4267 hsa-miR-548m hsa-miR-3613-3p hsa-miR-23a hsa-miR-296-5p
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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

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signal Transduction
    Assembly of HIV virion0.36
    Synthesis And Processing Of GAG, GAGPOL Polyproteins0.36
    Membrane binding and targetting of GAG proteins0.36
    Endosomal Sorting Complex Required For Transport (ESCRT)0.14
    2Late Phase of HIV Life Cycle
    Late Phase of HIV Life Cycle1.00
    HIV Life Cycle0.90
    3HIV Infection
    HIV Infection1.00
    4Disease
    Disease1.00
    5Membrane Trafficking
    Membrane Trafficking1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/9        Reactome Pathways for VPS37D (see all 9)
        Late Phase of HIV Life Cycle
    Membrane Trafficking
    Synthesis And Processing Of GAG, GAGPOL Polyproteins
    Endosomal Sorting Complex Required For Transport (ESCRT)
    Disease


    1         Kegg Pathway  (Kegg details for VPS37D):
        Endocytosis


    VPS37D for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for VPS37D

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/23 Interacting proteins for VPS37D (Q86XT22, 3 ENSP000003204164) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CEP55Q53EZ42, 3, ENSP000003605404MINT-6173476 I2D: score=2 STRING: ENSP00000360540
    TSG101Q998163, ENSP000002519684I2D: score=1 STRING: ENSP00000251968
    HGSO149643, ENSP000003312014I2D: score=1 STRING: ENSP00000331201
    CHMP2AENSP000003104404STRING: ENSP00000310440
    CHMP2BENSP000002637804STRING: ENSP00000263780
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--
    GO:0016032viral reproduction TAS--
    GO:0016044cellular membrane organization TAS--
    GO:0016197endosomal transport TAS--
    GO:0046788egress of virus within host cell TAS--

    VPS37D 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
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    Browse Tocris compounds for VPS37D
    Search CenterWatch for drugs/clinical trials and news about VPS37D / VP37D 

    (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 VPS37D gene (2 alternative transcripts): 
    NM_152560.1  NM_001077621.1  

    Unigene Cluster for VPS37D:

    Vacuolar protein sorting 37 homolog D (S. cerevisiae)
    Hs.647037  [show with all ESTs]
    Unigene Representative Sequence: BC029730
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000324941(uc003tyr.3) ENST00000451519

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    hsa-miR-194* hsa-miR-765 hsa-miR-449a hsa-miR-4267 hsa-miR-548m hsa-miR-3613-3p hsa-miR-23a hsa-miR-296-5p
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    Additional cDNA sequence: 

    AY081952.1 BC029730.1 BC064621.1 

    2 DOTS entries:

    DT.100018588  DT.95074989 

    24/38 AceView cDNA sequences (see all 38):

    BC064621 CR596679 CR594226 CB216590 AW449892 BU740849 BX108782 AL526252 
    BF593962 BC029730 BX410346 BM906293 AA862452 AI521163 AA913638 BI823566 
    AL526216 BM701148 AI696387 BE883379 BM725417 BQ954989 AY081952 AA913175 

    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

    VPS37D expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTCCAGACCC
    VPS37D Expression
    About this image
    See VPS37D Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VPS37D

    SOURCE GeneReport for Unigene cluster: Hs.647037
        SABiosciences Custom PCR Arrays for VPS37D

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for VPS37D gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LOC1008598791 vacuolar protein sorting-associated protein 37D-like 68.07(n)
    58.42(a)
      100859879  XM_003642373.1  XP_003642421.1 
    lizard
    (Anolis carolinensis)
    Reptilia VPS37D6
    --
    47(a)
    1 ↔ 1
    GL344691.1(17272-20740)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1539966
    zgc:153996
    23(a)
    1 → many
    1(45405387-45418016)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG11156
    --
    24(a)
    1 → many
    3R(1051882-1053248)
    worm
    (Caenorhabditis elegans)
    Secernentea vps-376
    related to yeast Vacuolar Protein Sorting factor f...
    23(a)
    1 → many
    V(5592691-5593592)


    ENSEMBL Gene Tree for VPS37D (if available)
    TreeFam Gene Tree for VPS37D (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VPS37D gene
    VPS37B2  VPS37C2  VPS37A2  
    2 SIMAP similar genes for VPS37D using alignment to 2 protein entries:     VP37D_HUMAN (see all proteins):
    VPS37C    VPS37B

    VPS37D 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

    10/81 NCBI SNPs in VPS37D are shown (see all 81    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1494580201,2
    --73080342(+) CGGCCA/GGCTAC 1 -- us2k10--------
    rs1828446441,2
    --73080535(+) TGACAC/TCTGCC 1 -- us2k10--------
    rs1439176541,2
    --73080606(+) CCTGAA/GGGCAG 1 -- us2k10--------
    rs18809521,2
    C,F,H--73080635(+) GCCTAG/ACCCAG 1 -- us2k116Minor allele frequency- A:0.03EA NS NA WA CSA 673
    rs1874805821,2
    --73080655(+) CAGAGC/TGGCAT 1 -- us2k10--------
    rs1916764091,2
    --73080737(+) GGAGGC/TGACAT 1 -- us2k10--------
    rs1996835461,2
    --73080747(+) TCATC-/TCT   
      TTTTTT
    TCTTT
    1 -- us2k10--------
    rs345647621,2
    F--73080883(+) CCACCT/CGAGTA 1 -- us2k13Minor allele frequency- C:0.33NA CSA 6
    rs556683101,2
    C--73081019(+) CTACCG/ATGCCC 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs731388221,2
    C,F--73081117(+) CTATCC/TCTCAG 1 -- us2k12Minor allele frequency- T:0.21NA EA 240

    HapMap Linkage Disequilibrium report for VPS37D (73082155 - 73086442 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for VPS37D: --

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing VPS37D
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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

    VPS37D for disorders           About GeneDecksing

    OMIM gene information: 610039    OMIM disorders: --

    UniProtKB/Swiss-Prot: VP37D_HUMAN, Q86XT2
  • Note=VPS37D is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous
  • deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between
    highly homologous low-copy repeat sequences flanking the deleted region

    1 disease for VPS37D:    About MalaCards
    williams-beuren syndrome

    1 disease from the University of Copenhagen DISEASES database for VPS37D:
    Williams-Beuren syndrome

    Export disorders for VPS37D 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 VPS37D gene integrated from 9 sources:
    (articles sorted by number of sources associating them with VPS37D)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human endosomal sorting complex required for transport (ESCRT-I) and its role in HIV-1 budding. (PubMed id 15218037)1, 2, 3 Stuchell M.D....Sundquist W.I. (2004)
    2. Human ESCRT and ALIX proteins interact with proteins of the midbody and function in cytokinesis. (PubMed id 17853893)1 Morita E....Sundquist W.I. (2007)
    3. Identification of human MVB12 proteins as ESCRT-I subunits that function in HIV budding. (PubMed id 18005716)2 Morita E....Sundquist W.I. (2007)
    4. 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)
    5. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (2003)
    6. 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)
    7. 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)
    8. Secretory protein trafficking and organelle dynamics in living cells. (PubMed id 11031247)1 Lippincott-Schwartz J....Hirschberg K. (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: 155382 HGNC: 18287 AceView: WBSCR24 Ensembl:ENSG00000176428 euGenes: HUgn155382
    ECgene: VPS37D Kegg: 155382 H-InvDB: VPS37D

    (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 VPS37D 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 VPS37D gene:
    Search GeneIP for patents involving VPS37D

    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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