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RWDD2B Gene

protein-coding   GIFtS: 43
GCID: GC21M030376

RWD Domain Containing 2B

(Previous name: chromosome 21 open reading frame 6)
(Previous symbol: C21orf6)
  See RWDD2B-related disease
at  

(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
RWD Domain Containing 2B1 2
C21orf61 2 3
Chromosome 21 Open Reading Frame 61
RWD Domain-Containing Protein 2B2

External Ids:    HGNC: 13021   Entrez Gene: 100692   Ensembl: ENSG000001562537   UniProtKB: P570603   

Export aliases for RWDD2B gene to outside databases

Previous GC identifers: GC21M029300 GC21M015782


(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 RWDD2B Gene:
RWDD2B (RWD domain containing 2B) is a protein-coding gene. Diseases associated with RWDD2B include monosomy 21. An important paralog of this gene is RWDD2A.

Gene Wiki entry for RWDD2B Gene


(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:
   Regulatory transcription factor binding sites in the RWDD2B gene promoter:
         c-Fos   AP-1   MEF-2   GATA-1   Evi-1   MEF-2A   FOXO4   Chx10   c-Jun   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRWDD2B promoter sequence
   Search Chromatin IP Primers for RWDD2B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RWDD2B


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

Entrez Gene cytogenetic band: 21q22.11   Ensembl cytogenetic band:  21q21.3   HGNC cytogenetic band: 21q22.11

RWDD2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RWDD2B gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21M030376:  view genomic region     (about GC identifiers)

Start:
30,376,705 bp from pter      End:
30,391,699 bp from pter
Size:
14,995 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RWD2B_HUMAN, P57060 (See protein sequence)
Recommended Name: RWD domain-containing protein 2B  
Size: 319 amino acids; 36332 Da
1 PDB 3D structure from and Proteopedia for RWDD2B:
2DAX (3D)    

Explore the universe of human proteins at neXtProt for RWDD2B: NX_P57060

Explore proteomics data for RWDD2B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RWDD2B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_058636.1  
    ENSEMBL proteins: 
     ENSP00000418693  

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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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    4 InterPro protein domains:
     IPR016135 UBQ-conjugating_enzyme/RWD
     IPR010541 DUF1115
     IPR006575 RWD-domain
     IPR017359 UCP038021_RWD

    Graphical View of Domain Structure for InterPro Entry P57060

    ProtoNet protein and cluster: P57060

    2 Blocks protein domains:
    IPB006575 RWD
    IPB010541 Protein of unknown function DUF1115


    UniProtKB/Swiss-Prot: RWD2B_HUMAN, P57060
    Similarity: Contains 1 RWD domain


    Find genes that share domains with RWDD2B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with RWDD2B           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RWDD2B
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    hsa-miR-328 hsa-miR-551b* hsa-miR-4277
    SwitchGear 3'UTR luciferase reporter plasmidRWDD2B 3' UTR sequence
    Inhib. RNA
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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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    Find genes that share ontologies with RWDD2B           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RWDD2B
    Interactions:

        Search GeneGlobe Interaction Network for RWDD2B

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    Selected Interacting proteins for RWDD2B (P570602, 3 ENSP000004186934) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GADD45GO952572, 3, ENSP000002525064MINT-66050 I2D: score=5 STRING: ENSP00000252506
    DNM2P505702, 3, ENSP000003527214MINT-8254476 I2D: score=2 STRING: ENSP00000352721
    DDX19BQ9UMR23, ENSP000002880714I2D: score=3 STRING: ENSP00000288071
    IKZF1Q134223I2D: score=1 
    --Q7Z4W53I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    Find genes that share ontologies with RWDD2B           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 Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RWDD2B (RWD2B)



    (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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    REFSEQ mRNAs for RWDD2B gene: 
    NM_016940.2  

    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000493196(uc002yms.3) ENST00000486719 ENST00000286777 ENST00000472184
    ENST00000466746 ENST00000481411 ENST00000471269
    miRNA
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    hsa-miR-328 hsa-miR-551b* hsa-miR-4277
    SwitchGear 3'UTR luciferase reporter plasmidRWDD2B 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat RWDD2B
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    Selected AceView cDNA sequences (see all 143):

    BU689778 BE301503 BE017992 AA316030 CB132391 BP378473 CR610226 BM806250 
    AA680073 CR592518 CR607703 AW264762 BC017912 CB178393 AA435676 BG679157 
    BG574271 BP354098 AF212232 BM127951 BI771230 CF264970 AK000056 AA827250 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RWDD2B (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b · 8c
    SP1:                                -     -     -     -           -                       -                                                   
    SP2:                                -     -                       -                       -                                                   
    SP3:                                      -           -           -                                                                           
    SP4:                                -     -     -     -                                   -                                                   
    SP5:                                -     -     -     -           -     -     -     -     -                                                   


    ECgene alternative splicing isoforms for RWDD2B

    (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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    RWDD2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTGAAAGCA
    RWDD2B Expression
    About this image

    RWDD2B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RWDD2B Protein Expression

    UniProtKB/Swiss-Prot: RWD2B_HUMAN, P57060
    Tissue specificity: Ubiquitous

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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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    This gene was present in the common ancestor of animals.

    Orthologs for RWDD2B gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rwdd2b1 , 5 RWD domain containing 2B1, 5 84.83(n)1
    82.07(a)1
      16 (49.53 cM)5
    538581  NM_016924.21  NP_058620.21 
     874334075 
    chicken
    (Gallus gallus)
    Aves RWDD2B1 RWD domain containing 2B 69.66(n)
    64.48(a)
      418484  XM_004938373.1  XP_004938430.1 
    lizard
    (Anolis carolinensis)
    Reptilia RWDD2B6
    RWD domain containing 2B
    63(a)
    1 ↔ 1
    3(146603334-146609278)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rwdd2b1 RWD domain containing 2B 60.44(n)
    58.13(a)
      780030  NM_001079107.1  NP_001072575.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rwdd2b1 RWD domain containing 2B 60.52(n)
    53.55(a)
      566444  NM_001075115.1  NP_001068583.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG303386
    --
    27(a)
    1 → many
    2R(5481552-5487010)


    ENSEMBL Gene Tree for RWDD2B (if available)
    TreeFam Gene Tree for RWDD2B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RWDD2B gene
    RWDD2A2  
    1 SIMAP similar gene for RWDD2B using alignment to 1 protein entry:     RWD2B_HUMAN:
    RWDD2A

    Find genes that share paralogs with RWDD2B           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for RWDD2B
    PGOHUM00000246141


    (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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    Selected SNPs for RWDD2B (see all 392)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs99801321,2
    C,H--30377679(+) CCTATG/TTGTGT 1 -- int15Minor allele frequency- T:0.23NS EA WA 492
    rs72781941,2
    C--30377758(+) TGCTAC/GTAAAA 1 -- int10--------
    rs1920099271,2
    --30377785(+) AGGCAC/TGGTGG 1 -- int10--------
    rs622240231,2
    C,F--30377855(+) GAGTTC/TAAGAC 1 -- int11Minor allele frequency- T:0.50NA 2
    rs2005401821,2
    C--30377902(+) AAAAA-/CACAAA 1 -- int10--------
    rs1133799431,2
    C,F--30377960(+) AGGCTG/AAGGCA 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1833293121,2
    --30378054(+) ACTCCA/GTCTAT 1 -- int10--------
    rs111701,2
    C,F,A,H--30378090(+) CAAAAC/TTGGTT 1 -- ut3122Minor allele frequency- T:0.27MN NS EA NA CSA WA 2625
    rs1459679221,2
    C--30378153(+) TCAACA/CATGTG 1 -- ut310--------
    rs763932001,2
    C--30378191(+) GCCCTA/C/G/
            
    CGTCG
    3 -- ut311CSA 2

    HapMap Linkage Disequilibrium report for RWDD2B (30376705 - 30391699 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RWDD2B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1501473CNV Insertion17803354
    esv1730794CNV Insertion17803354
    nsv513570CNV Insertion21212237

    Site Specific Mutation Identification with 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.)
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    1 disease for RWDD2B:    
    About MalaCards
    monosomy 21


    Find genes that share disorders with RWDD2B           About GenesLikeMe


    Export disorders for RWDD2B 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)
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    PubMed articles for RWDD2B gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with RWDD2B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a novel gene, C21orf6, mapping to a critical region of chromosome 21q22.1 involved in the monosomy 21 phenotype and of its murine ortholog, orf5. (PubMed id 10729227)1, 2, 3 Orti R.... Delabar J.-M. (Genomics 2000)
    2. 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. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M.... Yaspo M.-L. (Nature 2000)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    7. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    8. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)

    (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)
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    Entrez Gene: 10069 HGNC: 1302 AceView: C21orf6 Ensembl:ENSG00000156253 euGenes: HUgn10069
    ECgene: RWDD2B H-InvDB: RWDD2B

    (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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    NameDescription
    PharmGKB entry for RWDD2B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RWDD2B gene:
    Search GeneIP for patents involving RWDD2B

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, 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
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