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

FASTKD2 Gene

protein-coding   GIFtS: 50
GCID: GC02P207630

FAST kinase domains 2

(Previous name: KIAA0971 )
(Previous symbol: KIAA0971)
 Explore 4 diseases affiliated with
FASTKD2 via our new
 Human Malady Compendium 
Biological research products
for FASTKD2
    

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

Aliases
FAST Kinase Domains 21 2
KIAA09711 2 3 5
FAST Kinase Domain-Containing Protein 22

External Ids:    HGNC: 291601   Entrez Gene: 228682   Ensembl: ENSG000001182467   OMIM: 6123225   UniProtKB: Q9NYY83   

Export aliases for FASTKD2 gene to outside databases

Previous GC identifers: GC02P207338 GC02P199479


(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 FASTKD2:
This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in
mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. (provided
by RefSeq, Oct 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_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FASTKD2 gene promoter:
         AREB6   POU2F1   HFH-1   POU2F1a   CUTL1   Cdc5   C/EBPalpha   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): FASTKD2 promoter sequence
   Search SABiosciences Chromatin IP Primers for FASTKD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FASTKD2


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

Entrez Gene cytogenetic band: 2q33.3   Ensembl cytogenetic band:  2q33.3   HGNC cytogenetic band: 2q33.3

FASTKD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FASTKD2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P207630:  view genomic region     (about GC identifiers)

Start:
207,630,081 bp from pter      End:
207,660,913 bp from pter
Size:
30,833 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: FAKD2_HUMAN, Q9NYY8 (See protein sequence)
Recommended Name: FAST kinase domain-containing protein 2  
Size: 710 amino acids; 81463 Da
Caution: It is uncertain whether Met-1 or Met-17 is the initiator
Sequence caution: Sequence=BAA76815.2; Type=Erroneous initiation; Sequence=BAA91617.1; Type=Erroneous initiation;
Secondary accessions: Q9NVX6 Q9Y2H7
Alternative splicing: 2 isoforms:  Q9NYY8-1   Q9NYY8-2   

Explore the universe of human proteins at neXtProt for FASTKD2: NX_Q9NYY8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NYY8

  • FASTKD2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001129665.1  NP_001129666.1  NP_055744.2  

    ENSEMBL proteins: 
     ENSP00000236980   ENSP00000409927   ENSP00000385990   ENSP00000384929  

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    Novus Biologicals FASTKD2 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for FASTKD2

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

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


    FASTKD2 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

    FASTKD2 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR010622 FAST_Leu-rich
     IPR013584 RAP
     IPR013579 FAST_2

    Graphical View of Domain Structure for InterPro Entry Q9NYY8

    ProtoNet protein and cluster: Q9NYY8

    2 Blocks protein families:
    IPB013579 FAST kinase-like protein
    IPB013584 RAP domain


    UniProtKB/Swiss-Prot: FAKD2_HUMAN, Q9NYY8
    Similarity: Belongs to the FAST kinase family
    Similarity: Contains 1 RAP domain


    (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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FASTKD2
    8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate FASTKD2 (see all 19):
    hsa-miR-549 hsa-miR-520d-5p hsa-miR-548s hsa-miR-583 hsa-miR-1323 hsa-miR-3613-3p hsa-miR-186 hsa-miR-3915
    SwitchGear 3'UTR luciferase reporter plasmidFASTKD2 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity IEA--


    FASTKD2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for FASTKD2:
     Synthetic lethal with Ras 


    (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 FASTKD2

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

    5/235 Interacting proteins for FASTKD2 (Q9NYY82, 3 ENSP000002369804) via UniProtKB, MINT, STRING, and/or I2D (see all 235)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    PHLDA3Q9Y5J53, ENSP000003562784I2D: score=1 STRING: ENSP00000356278
    TRAF6Q9Y4K33I2D: score=1 
    TSC22D1Q157143I2D: score=1 
    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:0045333cellular respiration ISS--


    FASTKD2 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 FASTKD2
    Search CenterWatch for drugs/clinical trials and news about FASTKD2 / FAKD2 

    (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 FASTKD2 gene (3 alternative transcripts): 
    NM_001136193.1  NM_001136194.1  NM_014929.3  

    Unigene Clusters for FASTKD2:

    FAST kinase domains 2
    Hs.5930  [show with all ESTs], Hs.722628
    Unigene Representative Sequences: NM_001136194, AK127714
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000236980(uc002vbu.3 uc002vbv.3 uc002vbx.3) ENST00000418289
    ENST00000402774 ENST00000403094 ENST00000487777(uc002vbw.1) ENST00000471788


    miRNA
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    8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate FASTKD2 (see all 19):
    hsa-miR-549 hsa-miR-520d-5p hsa-miR-548s hsa-miR-583 hsa-miR-1323 hsa-miR-3613-3p hsa-miR-186 hsa-miR-3915
    SwitchGear 3'UTR luciferase reporter plasmidFASTKD2 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: AK127714.1 

    14 DOTS entries:

    DT.95272454  DT.313604  DT.409179  DT.97770921  DT.120991695  DT.75166799  DT.92437633  DT.101976445 
    DT.91678029  DT.100036806  DT.100817752  DT.120991756  DT.40220861  DT.75185990 

    24/229 AceView cDNA sequences (see all 229):

    AU117680 C00078 CA976132 C20667 AI627899 F26339 BX106519 AW151900 
    CF529280 CR608462 BQ720674 AI125268 AI269266 CB322012 CD671614 CD671615 
    BE874300 AK127714 AW473737 BQ943082 AI797015 BQ009497 AA235120 CF126553 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for FASTKD2 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b
    SP1:                    -                 -                                               -                                   -           -               
    SP2:              -     -                 -                                               -                                   -           -               
    SP3:                                      -                                               -                                                               
    SP4:                                                                                      -                 -                 -                           
    SP5:                                                                                                                          -                           


    ECgene alternative splicing isoforms for FASTKD2

    (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

    FASTKD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CATTTGTAAA

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

    About this image
    See FASTKD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FASTKD2

    SOURCE GeneReport for Unigene clusters: Hs.5930 Hs.722628
        SABiosciences Custom PCR Arrays for FASTKD2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FASTKD2

    (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 chordates.

    Orthologs for FASTKD2 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fastkd21 , 5 FAST kinase domains 21, 5 77.89(n)1
    66.76(a)1
      1 (32.31 cM)5
    756191  NM_172422.31  NP_766010.11 
     637306145 
    chicken
    (Gallus gallus)
    Aves FASTKD21 FAST kinase domains 2 58.36(n)
    45.17(a)
      424096  XM_421951.3  XP_421951.2 
    lizard
    (Anolis carolinensis)
    Reptilia FASTKD26
    --
    47(a)
    1 ↔ 1
    GL343208.1(329153-343127)
    zebrafish
    (Danio rerio)
    Actinopterygii fastkd21 FAST kinase domains 2 51.87(n)
    37.76(a)
      564382  XM_687718.5  XP_692810.5 


    ENSEMBL Gene Tree for FASTKD2 (if available)
    TreeFam Gene Tree for FASTKD2 (if available) 

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

    (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

    10/593 NCBI SNPs in FASTKD2 are shown (see all 593    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs781803491,2
    C,--199477725(+) TCCTGG/CACTAT 3 -- us2k12Minor allele frequency- C:0.03NA 122
    rs64353491,2
    C,F,A,H,--199478060(+) AAATTG/TCTCCC 3 -- us2k111Minor allele frequency- T:0.04NS EA NA WA 1548
    rs118961211,2
    C,F,H,--199478904(+) aaatgC/Aaaact 3 -- us2k110Minor allele frequency- A:0.04NS EA NA WA 1386
    rs134121631,2
    C,F,H,--199479094(+) TGCCTC/GTCTGC 3 -- us2k16Minor allele frequency- G:0.02NS EA CSA WA 524
    rs168388391,2
    C,F,H,--199479635(+) GGCGCC/ACAGCA 3 -- us2k126Minor allele frequency- A:0.10NA MN EA NS WA CSA 3741
    rs412726571,2
    F,--199479813(+) GAACAT/CATGCT 3 -- ut512Minor allele frequency- C:0.05WA NA 238
    rs37625671,2
    C,F,--199479880(+) GCTGTC/TATGGC 3 -- ut513Minor allele frequency- T:0.18EA NA 1476
    rs168388421,2
    C,F,H,--199479902(+) GTAGTC/TACGGT 3 -- ut51 ese319Minor allele frequency- T:0.02NA NS EA WA 2138
    rs124688691,2
    C,F,H,--199480344(+) aacatG/Agtgaa 3 -- int14Minor allele frequency- A:0.50NA WA CSA 10
    rs2015308661,2
    C--199480552(-) TCTCTG/TTTTTT 3 -- int10--------

    HapMap Linkage Disequilibrium report for FASTKD2 (207630081 - 207660913 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FASTKD2: --
    Human Gene Mutation Database (HGMD): FASTKD2

    SABiosciences Cancer Mutation 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.)
    About This Section

    FASTKD2 for disorders           About GeneDecksing

    OMIM gene information: 612322   
    OMIM disorders: 220110  
    4 diseases for FASTKD2:    About MalaCards
    mitochondrial encephalomyopathy    encephalomyopathy    hemiplegia    breast cancer

    2 diseases from the University of Copenhagen DISEASES database for FASTKD2:
    Mitochondrial encephalomyopathy     Hemiplegia
    Human Genome Epidemiology (HuGE) Navigator: FASTKD2 (2 documents)

    Export disorders for FASTKD2 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 FASTKD2 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with FASTKD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (2000)
    5. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2 Nagase T.... Ohara O. (1999)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. A novel transcription complex that selectively modula tes apoptosis of breast cancer cells through regulation of FASTKD2. (PubMed id 21444724)1 Yeung K.T....Samuels H.H. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Genome-Wide Association Study of Anthropometric Trait s and Evidence of Interactions With Age and Study Year in Filipino Women. (PubMed id 20966902)1 Croteau-Chonka D.C....Mohlke K.L. (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)
    About This Section
    Entrez Gene: 22868 HGNC: 29160 AceView: KIAA0971 Ensembl:ENSG00000118246 euGenes: HUgn22868
    ECgene: FASTKD2 H-InvDB: FASTKD2

    (According to HUGE)
    About This Section
    HUGE: KIAA0971

    (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 FASTKD2 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 FASTKD2 gene:
    Search GeneIP for patents involving FASTKD2

    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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