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

BPIFA1 Gene

protein-coding   GIFtS: 48
GCID: GC20P031825

BPI fold containing family A, member 1

(Previous names: palate, lung and nasal epithelium carcinoma associated,...)
(Previous symbol: PLUNC)
 Explore 11 diseases affiliated with
BPIFA1 via our new
 Human Malady Compendium 
Biological research products
for BPIFA1
    

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

Aliases
BPI Fold Containing Family A, Member 11 2     Tracheal Epithelium-Enriched Protein2 3
PLUNC1 2 3 5     Von Ebner Protein Hl2 3
LUNX1 2 3     NASG2 3
SPLUNC11 2 5     SPURT2 3
BA49G10.51     Palate, Lung And Nasal Epithelium Carcinoma Associated1
Palate, Lung And Nasal Epithelium Associated1 2     BPI Fold-Containing Family A Member 12
Lung-Specific Protein X2 3     Ligand-Binding Protein RYA32
Nasopharyngeal Carcinoma-Related Protein2 3     Protein Plunc2
Palate Lung And Nasal Epithelium Clone Protein2 3     Tracheal Epithelium Enriched Protein2
Secretory Protein In Upper Respiratory Tracts2 3     

External Ids:    HGNC: 157491   Entrez Gene: 512972   Ensembl: ENSG000001981837   OMIM: 6074125   UniProtKB: Q9NP553   

Export aliases for BPIFA1 gene to outside databases


(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 BPIFA1:
This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways
and nasopharyngeal regions. The exact biological function of this gene is not known, however, it has been suggested to
be involved in inflammatory responses to irritants in the upper airways. It may also serve as a potential molecular
marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from
alternative splicing in the 3' UTR have been detected, but the full-length nature of only three are known. (provided
by RefSeq, Aug 2011)

UniProtKB/Swiss-Prot: BPIA1_HUMAN, Q9NP55
Function: May be involved in the airway inflammatory response after exposure to irritants. May be associated with tumor
progression. May play a role in innate immune responses of the upper airways

Gene Wiki entry for BPIFA1 (Plunc)


(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_000020.10  NC_018931.1  NT_011362.10  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for BPIFA1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBPIFA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BPIFA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BPIFA1


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

Entrez Gene cytogenetic band: 20q11.2   Ensembl cytogenetic band:  20q11.21   HGNC cytogenetic band: 20q11.21

BPIFA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BPIFA1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P031825:  view genomic region     (about GC identifiers)

Start:
31,823,801 bp from pter      End:
31,831,115 bp from pter
Size:
7,315 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: BPIA1_HUMAN, Q9NP55 (See protein sequence)
Recommended Name: BPI fold-containing family A member 1 precursor  
Size: 256 amino acids; 26713 Da
Subcellular location: Secreted (By similarity). Note=Found in the nasal mucus (By similarity). Apical side of airway
epithelial cells. Detected in nasal mucus (By similarity)
Miscellaneous: Binds lipopolysaccharides
Secondary accessions: A8K9R3 E1P5M9 Q9NZT0

Explore the universe of human proteins at neXtProt for BPIFA1: NX_Q9NP55

Post-translational modifications:

  • May be N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NP55

  • BPIFA1 Protein expression data from MOPED and PaxDb:    About this image 
    BPIFA1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001230122.1  NP_057667.1  NP_570913.1  

    ENSEMBL proteins: 
     ENSP00000364562   ENSP00000346251   ENSP00000364571  

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    Uscn Proteins for BPIFA1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IDA11425234

    BPIFA1 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

    BPIFA1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR017942 Lipid-bd_serum_glycop_N
     IPR017943 Bactericidal_perm-incr_a/b_dom

    Graphical View of Domain Structure for InterPro Entry Q9NP55

    ProtoNet protein and cluster: Q9NP55

    UniProtKB/Swiss-Prot: BPIA1_HUMAN, Q9NP55
    Similarity: Belongs to the BPI/LBP/Plunc superfamily. Plunc family


    (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: BPIA1_HUMAN, Q9NP55
    Function: May be involved in the airway inflammatory response after exposure to irritants. May be associated with tumor
    progression. May play a role in innate immune responses of the upper airways
    Induction: By all-trans retinoic acid (ATRA)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0008289lipid binding IEA--
         
    BPIFA1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Bpifa1):
     immune system 

    BPIFA1 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Bpifa1tm1(KOMP)Vlcg for BPIFA1
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for BPIFA1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BPIFA1


    (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 BPIFA1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for BPIFA1 (Q9NP552, 3 ENSP000003462514) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2873156 I2D: score=3 STRING: ENSP00000357292
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    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:0045087innate immune response NAS11971875

    BPIFA1 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 BPIFA1
    Search CenterWatch for drugs/clinical trials and news about BPIFA1 / BPIA1 

    (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 BPIFA1 gene (3 alternative transcripts): 
    NM_001243193.1  NM_016583.3  NM_130852.2  

    Unigene Cluster for BPIFA1:

    BPI fold containing family A, member 1
    Hs.211092  [show with all ESTs]
    Unigene Representative Sequence: NM_130852
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375413(uc002wyu.4) ENST00000354297(uc002wyt.4) ENST00000375422(uc002wyv.3)


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    Inhib. RNA
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    Additional cDNA sequence: 

    AB024937.1 AF158745.1 AF172993.1 AF417256.1 AF417257.1 AF439448.1 AK292778.1 AY359020.1 
    BC012549.1 DQ846869.1 

    6 DOTS entries:

    DT.70105477  DT.100777985  DT.91963803  DT.120836661  DT.100677486  DT.120836675 

    24/346 AceView cDNA sequences (see all 346):

    BG570614 BM980253 AF417257 NM_016583 AF439448 BG546713 BM969176 BC012549 
    BU680449 AF417256 CD683513 N23239 BU684215 AY359020 AB024937 CD684650 
    CD693232 BM982243 BU684613 CD702648 CB321685 CD703091 CD690127 CD684598 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for BPIFA1    About this scheme

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


    ECgene alternative splicing isoforms for BPIFA1

    (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

    BPIFA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCCTCACCT
    BPIFA1 Expression
    About this image
    See BPIFA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BPIFA1

    SOURCE GeneReport for Unigene cluster: Hs.211092

    UniProtKB/Swiss-Prot: BPIA1_HUMAN, Q9NP55
    Tissue specificity: Lung, upper airways and nasopharyngeal regions, including trachea and nasal epithelium.
    Specifically expressed in the secretory ducts and submucosal glands of tracheobronchial tissues. Highest expression in
    the trachea and progressive decrease from proximal (bronchial) to distal (bronchiolar) airways. Also expressed in lung
    cancers and some other types of cancer

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    In Situ
    Assay Products:
     

     
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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
      --

    ENSEMBL Gene Tree for BPIFA1 (if available)
    TreeFam Gene Tree for BPIFA1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BPIFA1 gene
    BPIFB12  

    BPIFA1 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

    10/256 NCBI SNPs in BPIFA1 are shown (see all 256    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs61201761,2
    C,F,A,H--31821995(+) CACCAC/TCCAGA 3 -- us2k1 tfbs38Minor allele frequency- T:0.15NS EA NA CSA WA 544
    rs60591741,2
    H--31822099(+) TGGCAG/AGGTCA 3 -- us2k1 tfbs34Minor allele frequency- A:0.00NS EA 418
    rs1815675381,2
    --31822164(+) ATCCTC/TAGCCT 3 -- us2k10--------
    rs19981491,2
    C,F,A,H--31822170(+) AGCCTC/ACTCAT 3 -- us2k113Minor allele frequency- A:0.22NS EA NA WA CSA 763
    rs1870296091,2
    --31822191(+) AGAGAC/TAACAA 3 -- us2k10--------
    rs1919126851,2
    --31822203(+) ACCAAA/CCACTC 3 -- us2k10--------
    rs60591751,2
    H--31822205(+) CAACCA/GCTCCT 3 -- us2k14Minor allele frequency- G:0.00NS EA 408
    rs1485998181,2
    --31822217(+) AAGAAA/GATGAG 3 -- us2k10--------
    rs1431909591,2
    --31822234(+) ATATGC/GAGAGC 3 -- us2k10--------
    rs1466854061,2
    --31822244(+) CACCTC/GGCATG 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for BPIFA1 (31823801 - 31831115 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BPIFA1: --
    Human Gene Mutation Database (HGMD): BPIFA1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BPIFA1
    DNA2.0 Custom Variant and Variant Library Synthesis for BPIFA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    BPIFA1 for disorders           About GeneDecksing

    OMIM gene information: 607412    OMIM disorders: --

    11 diseases for BPIFA1:    About MalaCards
    nasopharyngitis    lung cancer    patent ductus arteriosus    carcinoma
    allergic rhinitis    rhinitis    cystic fibrosis    sinusitis
    fibrosis    ataxia    adenocarcinoma

    3 Novoseek disease relationships for BPIFA1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nasal epithelium 90.1 15 11396972 (1), 11821380 (1), 18245229 (1), 16195890 (1) (see all 8)
    nasopharyngeal carcinoma 65.6 4 12753706 (1), 16195890 (1), 16364440 (1), 20053927 (1)
    cancer lung 24.4 1 11251963 (1)


    Export disorders for BPIFA1 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 BPIFA1 gene, integrated from 9 sources (see all 53):
    (articles sorted by number of sources associating them with BPIFA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of a novel human lung-specific gene, LUNX, a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. (PubMed id 11251963)1, 2, 3, 9 Iwao K....Tanigami A. (2001)
    2. Characterization of the human plunc gene, a gene product with an upper airways and nasopharyngeal restricted expression pattern. (PubMed id 11018263)1, 2, 3 Bingle C.D. and Bingle L. (2000)
    3. Purification and characterization of PLUNC from human tracheobronchial secretions. (PubMed id 12920053)1, 2, 9 Campos M.A....Whitney P.L. (2004)
    4. Systematic nomenclature for the PLUNC/PSP/BSP30/SMGB proteins as a subfamily of the BPI fold-containing superfamily. (PubMed id 21787333)1, 3 Bingle C.D....Craven C.J. (2011)
    5. 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)
    6. PLUNC in human nasal lavage fluid: multiple isoforms that bind to lipopolysaccharide. (PubMed id 15158712)1, 2 Ghafouri B.... Lindahl M. (2004)
    7. Molecular cloning and characterization of spurt, a human novel gene that is retinoic acid-inducible and encodes a secretory protein specific in upper respiratory tracts. (PubMed id 12409287)1, 2 Di Y.-P.... Wu R. (2003)
    8. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    9. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    10. Identification of a new potential airway irritation marker, palate lung nasal epithelial clone protein, in human nasal lavage fluid with two-dimensional electrophoresis and matrix-assisted laser desorption/ionization-time of flight. (PubMed id 11425234)1, 2 Lindahl M.... Tagesson C. (2001)

    (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: 51297 HGNC: 15749 AceView: PLUNC Ensembl:ENSG00000198183 euGenes: HUgn51297
    ECgene: BPIFA1 H-InvDB: BPIFA1

    (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 BPIFA1 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 BPIFA1 gene:
    Search GeneIP for patents involving BPIFA1

    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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