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POU2F1 Gene

protein-coding   GIFtS: 66
GCID: GC01P167190

POU Class 2 Homeobox 1

(Previous names: POU domain class 2, transcription factor 1)
(Previous symbol: OTF1)
  See related diseases
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
POU Class 2 Homeobox 11 2     POU Domain Class 2, Transcription Factor 11
OTF11 2 3 5     oct-12
OCT12 3 5     oct-1B2
Octamer-Binding Protein 12 3     Octamer-Binding Transcription Factor-12
Octamer-Binding Transcription Factor 12 3     POU Domain, Class 2, Transcription Factor 12
NF-A12 3     Oct-13
OTF-12 3     

External Ids:    HGNC: 92121   Entrez Gene: 54512   Ensembl: ENSG000001431907   OMIM: 1641755   UniProtKB: P148593   

Export aliases for POU2F1 gene to outside databases

Previous GC identifers: GC01P164826 GC01P162840 GC01P163886 GC01P164377 GC01P163921 GC01P165456 GC01P138436


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for POU2F1 Gene:
The OCT1 transcription factor was among the first identified members of the POU transcription factor family
(summarized by Sturm et al., 1993 (PubMed 8314572)). Members of this family contain the POU domain, a 160-amino
acid region necessary for DNA binding to the octameric sequence ATGCAAAT.(supplied by OMIM, Jul 2010)

GeneCards Summary for POU2F1 Gene:
POU2F1 (POU class 2 homeobox 1) is a protein-coding gene. Diseases associated with POU2F1 include hereditary persistence of fetal hemoglobin, and varicose veins. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is POU5F2.

UniProtKB/Swiss-Prot: PO2F1_HUMAN, P14859
Function: Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3') and activates the promoters of the
genes for some small nuclear RNAs (snRNA) and of genes such as those for histone H2B and immunoglobulins.
Modulates transcription transactivation by NR3C1, AR and PGR (By similarity). In case of human herpes simplex
virus (HSV) infection, POU2F1 forms a multiprotein-DNA complex with the viral transactivator protein VP16 and
HCFC1 thereby enabling the transcription of the viral immediate early genes

Gene Wiki entry for POU2F1 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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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the POU2F1 gene promoter:
         SRF   AP-2alpha isoform 3   SRF (504 AA)   Nkx2-5   STAT5A   AP-2alpha isoform 2   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOU2F1 promoter sequence
   Search Chromatin IP Primers for POU2F1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POU2F1


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

Entrez Gene cytogenetic band: 1q24.2   Ensembl cytogenetic band:  1q24.1   HGNC cytogenetic band: 1q24.2

POU2F1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POU2F1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P167190:  view genomic region     (about GC identifiers)

Start:
167,190,066 bp from pter      End:
167,396,582 bp from pter
Size:
206,517 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for POU2F1

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: PO2F1_HUMAN, P14859 (See protein sequence)
Recommended Name: POU domain, class 2, transcription factor 1  
Size: 743 amino acids; 76472 Da
Subunit: Interacts with NR3C1, AR, PGR and HCFC1. Associates with the herpes simplex virus VP16-induced complex;
binding to HCFC1 activates the viral transcriptional activator VP16 for association with POU2F1, to form a
multiprotein-DNA complex responsible for activating transcription of the viral immediate early genes
Selected PDB 3D structures from and Proteopedia for POU2F1 (see all 8):
1CQT (3D)        1E3O (3D)        1GT0 (3D)        1HF0 (3D)        1O4X (3D)        1OCT (3D)    
Secondary accessions: B1AL91 B1AL93 B4E029 Q5TBT7 Q6PK46 Q8NEU9 Q9BPV1
Alternative splicing: 5 isoforms:  P14859-1   P14859-2   P14859-3   P14859-4   P14859-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for POU2F1: NX_P14859

Explore proteomics data for POU2F1 at MOPED

Post-translational modifications: 

  • Phosphorylated by PRKDC1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See POU2F1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001185712.1  NP_001185715.1  NP_002688.3  

    ENSEMBL proteins: 
     ENSP00000356840   ENSP00000404571   ENSP00000453094   ENSP00000401217   ENSP00000271411  
     ENSP00000356836   ENSP00000415993   ENSP00000414660   ENSP00000441285   ENSP00000391523  
    Reactome Protein details: P14859

    POU2F1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for POU2F1
    OriGene Protein Over-expression Lysate for POU2F1
    OriGene MassSpec for POU2F1
    OriGene Custom Protein Services for POU2F1
    GenScript Custom Purified and Recombinant Proteins Services for POU2F1
    Novus Biologicals POU2F1 Protein
    Novus Biologicals POU2F1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    POU2F1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of POU2F1
    R&D Systems Antibodies for POU2F1 (1-Oct)
    Cell Signaling Technology (CST) Antibodies for POU2F1  (1-Oct)
    OriGene Antibodies for POU2F1
    OriGene Custom Antibody Services for POU2F1
    Novus Biologicals POU2F1 Antibodies
    Abcam antibodies for POU2F1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for POU2F1
    LSBio Antibodies in human, mouse, rat for POU2F1

    POU2F1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for POU2F1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    POU: Homeoboxes / POU class

    Selected InterPro protein domains (see all 7):
     IPR010982 Lambda_DNA-bd_dom
     IPR000972 TF_octamer
     IPR013847 POU
     IPR000327 POU_specific
     IPR017970 Homeobox_CS

    Graphical View of Domain Structure for InterPro Entry P14859

    ProtoNet protein and cluster: P14859

    3 Blocks protein domains:
    IPB000327 POU domain
    IPB000972 Octamer-binding transcription factor signature
    IPB013847 POU


    UniProtKB/Swiss-Prot: PO2F1_HUMAN, P14859
    Similarity: Belongs to the POU transcription factor family. Class-2 subfamily
    Similarity: Contains 1 homeobox DNA-binding domain
    Similarity: Contains 1 POU-specific domain


    POU2F1 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PO2F1_HUMAN, P14859
    Function: Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3') and activates the promoters of the
    genes for some small nuclear RNAs (snRNA) and of genes such as those for histone H2B and immunoglobulins.
    Modulates transcription transactivation by NR3C1, AR and PGR (By similarity). In case of human herpes simplex
    virus (HSV) infection, POU2F1 forms a multiprotein-DNA complex with the viral transactivator protein VP16 and
    HCFC1 thereby enabling the transcription of the viral immediate early genes

         Genatlas biochemistry entry for POU2F1:
    POU domain,class 2,transcription factor 1

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ----
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI10629049
    GO:0043565sequence-specific DNA binding IDA11997177
         
    POU2F1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for POU2F1:
     Increased cell number in S and 

         13 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Pou2f1):
     behavior/neurological  craniofacial  embryogenesis  endocrine/exocrine gland  growth/size/body 
     hematopoietic system  integument  liver/biliary system  mortality/aging  nervous system 
     respiratory system  taste/olfaction  vision/eye 

    POU2F1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for POU2F1: Pou2f1tm1Cav Cd247/Pou2f1Cd247/tm1Tks

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POU2F1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for POU2F1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for POU2F1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POU2F1

    miRNA
    Products:
        
    miRTarBase miRNAs that target POU2F1:
    hsa-mir-30c-5p (MIRT047990), hsa-mir-324-3p (MIRT043000), hsa-mir-98-5p (MIRT027851), hsa-mir-9-5p (MIRT021477), hsa-mir-101-3p (MIRT027386), hsa-mir-34a-5p (MIRT025581), hsa-mir-215-5p (MIRT024501), hsa-mir-26b-5p (MIRT030341), hsa-mir-192-5p (MIRT026960), hsa-mir-15b-5p (MIRT046392)

    Block miRNA regulation of human, mouse, rat POU2F1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate POU2F1 (see all 277):
    hsa-miR-579 hsa-miR-605 hsa-miR-1273d hsa-miR-3622b-3p hsa-miR-761 hsa-miR-520b hsa-miR-3690 hsa-miR-34c-5p
    SwitchGear 3'UTR luciferase reporter plasmidPOU2F1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for POU2F1
    Predesigned siRNA for gene silencing in human, mouse, rat POU2F1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for POU2F1

    Clone
    Products:
         
    OriGene clones in human, mouse for POU2F1 (see all 16)
    OriGene ORF clones in mouse, rat for POU2F1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): POU2F1 (NM_001198783)
    Sino Biological Human cDNA Clone for POU2F1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POU2F1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POU2F1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for POU2F1
    Browse ESI BIO Cell Lines and PureStem Progenitors for POU2F1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU2F1


    (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 UniProtKB/Swiss-Prot
    PO2F1_HUMAN, P14859: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex ----
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    POU2F1 for ontologies           About GeneDecksing


    (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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    SuperPaths for POU2F1 About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase III Transcription Initiation
    RNA Polymerase III Transcription Initiation0.88
    RNA Polymerase III Transcription0.88
    RNA Polymerase III Abortive And Retractive Initiation0.88
    RNA Polymerase III Transcription Initiation From Type 3 Promoter0.80
    2Calcineurin-regulated NFAT-dependent transcription in lymphocytes
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes0.38
    Calcium signaling in the CD4+ TCR pathway0.38
    3RNA Polymerase I Promoter Opening
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.73
    4TCR Signaling (Qiagen)
    PKC-Theta Pathway0.68
    5PEDF Induced Signaling
    Glucocorticoid Receptor Signaling0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for POU2F1
        BRCA1 Pathway
    Glucocorticoid Receptor Signaling
    PKC-Theta Pathway

    2 GeneGo (Thomson Reuters) Pathways for POU2F1
        Immune response IL-3 activation and signaling pathway
    Development Glucocorticoid receptor signaling

    Selected BioSystems Pathways for POU2F1 (see all 6)
        Calcium signaling in the CD4+ TCR pathway
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes
    Regulation of Androgen receptor activity
    FOXA1 transcription factor network
    ATF-2 transcription factor network


    2 Reactome Pathways for POU2F1
        RNA Polymerase III Transcription Initiation From Type 3 Promoter
    RNA Polymerase III Abortive And Retractive Initiation



    POU2F1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including POU2F1: 
              Circadian Rhythms in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for POU2F1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for POU2F1 (P148591, 2, 3 ENSP000002714114) via UniProtKB, MINT, STRING, and/or I2D (see all 118)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TEAD1P283472, 3, ENSP000003545884MINT-73316 I2D: score=1 STRING: ENSP00000354588
    SP1P080471, 2, 3, ENSP000003293574EBI-624770,EBI-298336 MINT-6803426 MINT-6803452 MINT-6803484 MINT-6803438 MINT-6803470 I2D: score=4 STRING: ENSP00000329357
    ENSG00000228321P013753, ENSP000003928584I2D: score=1 STRING: ENSP00000392858
    ENSG00000204490P013753I2D: score=1 
    ENSG00000206439P013753I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006383transcription from RNA polymerase III promoter TAS--
    GO:0010467gene expression TAS--
    GO:0030910olfactory placode formation ----
    GO:0045892negative regulation of transcription, DNA-templated IDA11891224

    POU2F1 for ontologies           About GeneDecksing



    (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 POU2F1 (PO2F1)

    16 Novoseek inferred chemical compound relationships for POU2F1 gene (see top 10)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    s-napc 78.7 15 9188510 (4), 11463379 (3), 9832505 (2), 9418884 (2)
    gnrh 27.2 8 12188930 (2), 16002402 (2), 15319450 (2), 10674395 (1)
    diamide 23.8 2 9115711 (1), 9489510 (1)
    retinoic acid 13.7 9 7646519 (4), 8455626 (3), 14993281 (1)
    zinc 9.13 8 10455183 (3), 9111349 (1), 7568211 (1), 14669980 (1) (see all 5)
    glyceraldehyde 3-phosphate 8.59 5 12887926 (1), 18682386 (1), 16301215 (1)
    oligonucleotide 6.28 5 8026890 (1), 9518258 (1), 14729276 (1)
    calcium 1.5 1 8964085 (1)
    nitric oxide 0 16 9489510 (6), 19467240 (1), 10674395 (1)
    cyclic amp 0 2 15336700 (1), 14993281 (1)
    12-o-tetradecanoylphorbol 13-acetate 0 3 7931079 (2), 15994198 (1)
    dithiothreitol 0 4 9489510 (1), 1751407 (1)
    glutamate 0 5 16787415 (2), 10674395 (1), 1358756 (1)
    butyrate 0 1 1751407 (1)
    serine 0 4 19070619 (1)
    vitamin d 0 1 7708050 (1)



    POU2F1 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for POU2F1 gene (3 alternative transcripts): 
    NM_001198783.1  NM_001198786.1  NM_002697.3  

    Unigene Cluster for POU2F1:

    POU class 2 homeobox 1
    Hs.283402  [show with all ESTs]
    Unigene Representative Sequence: NM_001198783
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367866(uc001geg.3 uc001gee.3 uc010plh.2) ENST00000559038
    ENST00000557909 ENST00000442313 ENST00000560232 ENST00000429375 ENST00000492850
    ENST00000367865(uc001ged.3) ENST00000271411(uc010plg.2 uc001gec.3)
    ENST00000367862(uc001gef.3) ENST00000557874 ENST00000470928 ENST00000443275(uc009wvg.1)
    ENST00000490100 ENST00000559648 ENST00000420254 ENST00000541643 ENST00000452019

    miRNA
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    Block miRNA regulation of human, mouse, rat POU2F1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate POU2F1 (see all 277):
    hsa-miR-579 hsa-miR-605 hsa-miR-1273d hsa-miR-3622b-3p hsa-miR-761 hsa-miR-520b hsa-miR-3690 hsa-miR-34c-5p
    SwitchGear 3'UTR luciferase reporter plasmidPOU2F1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for POU2F1
    Predesigned siRNA for gene silencing in human, mouse, rat POU2F1
    Clone
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    OriGene clones in human, mouse for POU2F1 (see all 16)
    OriGene ORF clones in mouse, rat for POU2F1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): POU2F1 (NM_001198783)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POU2F1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POU2F1
    Primer
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    OriGene qPCR primer pairs and template standards for POU2F1
    OriGene qSTAR qPCR primer pairs in human, mouse for POU2F1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat POU2F1
      QuantiTect SYBR Green Assays in human, mouse, rat POU2F1
      QuantiFast Probe-based Assays in human, mouse, rat POU2F1

    Additional mRNA sequence: 

    AK091438.1 AK124826.1 AK303201.1 AK308004.1 AY113189.1 BC001664.2 BC003571.1 BC007388.2 
    BC037864.2 BC052274.1 CR627124.1 NR_037163.1 S66901.1 X13403.1 

    22 DOTS entries:

    DT.95140199  DT.95171994  DT.312945  DT.100788108  DT.101983687  DT.92434662  DT.203889  DT.309153 
    DT.100788111  DT.121436911  DT.100808918  DT.121436837  DT.100026449  DT.121436891  DT.437142  DT.91839750 
    DT.95171990  DT.95348533  DT.99934717  DT.100739535  DT.86848723  DT.92021422 

    Selected AceView cDNA sequences (see all 145):

    BQ938715 S66901 BG388369 BE269179 BC052274 BM040945 BE560757 BE396853 
    BM782895 BC003571 BQ068393 BM452501 BM694716 BQ213592 S66902 BE385281 
    AU122313 NM_002697 AU124383 BP339121 BQ928677 BC041822 BC007388 BG752224 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for POU2F1 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^
    SP1:                          -           -     -     -           -     -     -                                                     -                           
    SP2:                                                              -     -     -                                                     -                           
    SP3:                          -     -     -     -     -           -     -     -                                                     -                           
    SP4:                                                                                                                                -                           
    SP5:                                                              -     -     -                                               -     -                           

    ExUns: 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24
    SP1:                                                            
    SP2:                                                            
    SP3:                                                            
    SP4:                                            -     -         
    SP5:                                                            


    ECgene alternative splicing isoforms for POU2F1

    (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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    POU2F1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTGGAGAA
    POU2F1 Expression
    About this image


    POU2F1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 5 entries
             Fetal Corneal Superficial Epithelial Cells Corneal Epithelium
     
     Epithelial Cells
             Fetal Corneal Superficial Epithelial Cells Corneal Epithelium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Fibroblasts
             Keratocytes Corneal Stroma
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    POU2F1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POU2F1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.283402

    UniProtKB/Swiss-Prot: PO2F1_HUMAN, P14859
    Tissue specificity: Ubiquitous. Isoform 2 is lymphocyte-specific

        Pathway & Disease-focused RT2 Profiler PCR Array including POU2F1: 
              Circadian Rhythms in human mouse rat

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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 POU2F1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pou2f11 , 5 POU domain, class 2, transcription factor 11, 5 90.5(n)1
    93.46(a)1
      1 (73.21 cM)5
    189861  NM_011137.31  NP_035267.21 
     1658651545 
    chicken
    (Gallus gallus)
    Aves POU2F11 POU class 2 homeobox 1 88.96(n)
    95.12(a)
      396463  NM_205472.1  NP_990803.1 
    lizard
    (Anolis carolinensis)
    Reptilia POU2F16
    POU class 2 homeobox 1
    94(a)
    1 ↔ 1
    3(163498672-163661906)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.12652 Xenopus laevis Oct-1 mRNA 81.12(n)    X57165.1 
    zebrafish
    (Danio rerio)
    Actinopterygii oct12 octamer-binding transcription factor 1 75.16(n)   30715  AF030519.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta nub3 neuroblast determination transcription
    factor
    75(a)
    (best of 2)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-186
    Protein CEH-18, isoform c (ceh-18) mRNA, complete ...
    27(a)
    1 → many
    X(3843379-3857797) WBGene00000441


    ENSEMBL Gene Tree for POU2F1 (if available)
    TreeFam Gene Tree for POU2F1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POU2F1 gene
    POU5F22  POU6F22  POU4F22  POU2F32  POU3F12  POU3F42  POU1F12  POU3F32  
    POU4F32  POU3F22  POU2F22  POU5F1B2  POU4F12  POU6F12  POU5F12  
    16 SIMAP similar genes for POU2F1 using alignment to 3 protein entries:     PO2F1_HUMAN (see all proteins):
    OCT6    OCT-2    POU3F1    POU6F1    POU1F1    POU5F1P4
    POU2F2    POU2F3    POU3F4    POU5F1    NKX2-5    POU3F2
    POU4F3    POU5F1B    POU5F1P1    POU3F3

    POU2F1 for paralogs           About GeneDecksing



    (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 POU2F1 (see all 4063)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0358164
    A breast cancer sample4--see VAR_0358162 S F mis40--------
    rs1877466391,2
    --167188212(+) ACACAC/TACACT 3 -- us2k10--------
    rs1437566231,2
    C--167188269(+) AAAGAA/GCAAAA 3 -- us2k10--------
    rs1142291361,2
    F--167188585(+) TACCAC/AGAACA 3 -- us2k11Minor allele frequency- A:0.02NA 120
    rs14978611,2
    C,F,H--167188630(-) AAGCTA/GTTGTC 3 -- us2k19Minor allele frequency- G:0.03MN NS EA NA WA 1006
    rs1928852621,2
    C--167188644(+) CTGTAC/TTTGCA 3 -- us2k10--------
    rs1410846281,2
    --167188660(+) AAAGGA/GGTCCA 3 -- us2k10--------
    rs1848948991,2
    --167188790(+) TATCTC/GTCAAG 3 -- us2k10--------
    rs1889697171,2
    --167188886(+) AAATAA/GGGCTT 3 -- us2k10--------
    rs1501948131,2
    --167188992(+) GAAAGA/GTATGT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for POU2F1 (167190066 - 167396582 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for POU2F1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2719195CNV Deletion23290073
    nsv3421CNV Insertion18451855
    nsv3432CNV Insertion18451855
    nsv831803CNV Loss17160897
    nsv872523CNV Loss21882294
    nsv831814CNV Loss17160897
    nsv872524CNV Gain21882294
    nsv521232CNV Gain+Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing POU2F1
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    (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.)
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    OMIM gene information: 164175    OMIM disorders: --

    Selected diseases for POU2F1 (see all 48):    
    About MalaCards
    hereditary persistence of fetal hemoglobin    varicose veins    ventricular septal defect    merkel cell carcinoma
    herpes simplex    leukodystrophy    pituitary tumors    choriocarcinoma
    inflammatory bowel disease    sjogren's syndrome    retinoblastoma    chronic myeloid leukemia
    essential hypertension    lung cancer susceptibility    atherosclerosis    kaposi's sarcoma
    crohn's disease    esophageal cancer    rheumatoid arthritis    non-hodgkin lymphoma


    POU2F1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for POU2F1 gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    herpes simplex 53.9 14 1684335 (2), 1358755 (1), 7568211 (1), 7891704 (1) (see all 13)
    carcinoma embryonal 30.4 3 8455626 (3)
    retinoblastoma 21.6 2 7872668 (1), 10437913 (1)
    choriocarcinoma 5.03 1 16005513 (1)
    carcinoma 3.08 2 16278805 (1)
    metastasis 2.74 1 8502621 (1)
    cancer 0.97 3 10544969 (2), 19058140 (1)
    inflammatory bowel diseases 0 1 12019209 (1)
    breast carcinoma 0 1 10544969 (1)
    necrosis 0 2 17192276 (2)

    Genetic Association Database (GAD): POU2F1
    Human Genome Epidemiology (HuGE) Navigator: POU2F1 (11 documents)

    Export disorders for POU2F1 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 POU2F1 gene, integrated from 10 sources (see all 388):
    (articles sorted by number of sources associating them with POU2F1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mitotic phosphorylation of the Oct-1 homeodomain and regulation of Oct-1 DNA binding activity. (PubMed id 1684878)1, 2, 9 Segil N.... Heintz N. (Science 1991)
    2. Down-regulation of histone H2B by DNA-dependent protein kinase in response to DNA damage through modulation of octamer transcription factor 1. (PubMed id 14612514)1, 2, 9 Schild-Poulter C.... Hache R.J.G. (Cancer Res. 2003)
    3. Differential phosphorylation of the transcription factor Oct1 during the cell cycle. (PubMed id 1887216)1, 3, 9 Roberts S.B....Heintz N. (Science 1991)
    4. Human Oct-1L isoform has tissue-specific expression pattern similar to Oct-2. (PubMed id 12663137)1, 2, 9 Luchina N.N.... Pankratova E.V. (Immunol. Lett. 2003)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Interaction between polymorphisms in the OCT1 and MATE1 transporter and metformin response. (PubMed id 19898263)1, 4 Becker M.L....Stricker B.H. (Pharmacogenet. Genomics 2010)
    7. Association of the POU class 2 homeobox 1 gene (POU2F1) with susceptibility to Type 2 diabetes in Chinese populations. (PubMed id 21059098)1, 4 Ng M.C....Chan J.C. (Diabet. Med. 2010)
    8. Molecular reclassification of Crohn's disease by cluster analysis of genetic variants. (PubMed id 20886065)1, 4 Cleynen I....Vermeire S. (PLoS ONE 2010)
    9. Genetic risk profiling and prediction of disease course in Crohn's disease patients. (PubMed id 19422935)1, 4 Henckaerts L....Vermeire S. (Clin. Gastroenterol. Hepatol. 2009)
    10. Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort. (PubMed id 19174780)1, 4 Weersma R.K.... Vermeire S. (Am. J. Gastroenterol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5451 HGNC: 9212 AceView: POU2F1 Ensembl:ENSG00000143190 euGenes: HUgn5451
    ECgene: POU2F1 H-InvDB: POU2F1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for POU2F1 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 POU2F1 gene:
    Search GeneIP for patents involving POU2F1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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