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

POU3F2 Gene

protein-coding   GIFtS: 60
GCID: GC06P099295

POU Class 3 Homeobox 2

(Previous names: POU domain class 3, transcription factor 2)
(Previous symbol: OTF7)
  9 related diseases
at
MalaCards
 

Aliases
for POU3F2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
Aliases
POU Class 3 Homeobox 21 2     N-Oct32
OTF71 2 3     POUF32
OCT72 3 5     brain-22
Brain-Specific Homeobox/POU Domain Protein 22 3     brn-22
Nervous System-Specific Octamer-Binding Transcription Factor N-Oct-32 3     oct-72
Octamer-Binding Protein 72 3     POU Domain, Class 3, Transcription Factor 22
Octamer-Binding Transcription Factor 72 3     Brain-23
BRN22 3     Brn-23
OTF-72 3     Oct-73
POU Domain Class 3, Transcription Factor 21     

External Ids:    HGNC: 92151   Entrez Gene: 54542   Ensembl: ENSG000001844867   OMIM: 6004945   UniProtKB: P202653   

Export aliases for POU3F2 gene to outside databases

Previous GC identifers: GC06P099150 GC06P099299 GC06P099328 GC06P099389 GC06P096721


Summaries
for POU3F2 gene

(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 POU3F2 Gene:
This gene encodes a member of the POU-III class of neural transcription factors. The encoded protein is involved
in neuronal differentiation and enhances the activation of corticotropin-releasing hormone regulated genes.
Overexpression of this protein is associated with an increase in the proliferation of melanoma cells. (provided
by RefSeq, Mar 2012)

GeneCards Summary for POU3F2 Gene: 
POU3F2 (POU class 3 homeobox 2) is a protein-coding gene. Diseases associated with POU3F2 include merkel cell carcinoma, and microphthalmia. GO annotations related to this gene include identical protein binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is POU5F2.

UniProtKB/Swiss-Prot: PO3F2_HUMAN, P20265
Function: Transcription factor that binds preferentially to the recognition sequence which consists of two
distinct half-sites, ('GCAT') and ('TAAT'), separated by a nonconserved spacer region of 0, 2, or 3 nucleotides.
Positively regulates the genes under the control of corticotropin-releasing hormone (CRH) and CRH II promoters
(By similarity)

Gene Wiki entry for POU3F2 Gene


Genomic Views
for POU3F2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the POU3F2 gene promoter:
         TBP   AhR   C/EBPbeta   Pax-5   Tal-1   FOXD3   Arnt   E47   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: POU3F2 promoter sequence
   Search SABiosciences Chromatin IP Primers for POU3F2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat POU3F2


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

Entrez Gene cytogenetic band: 6q16   Ensembl cytogenetic band:  6q16.1   HGNC cytogenetic band: 6q16.2

POU3F2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POU3F2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P099295:  view genomic region     (about GC identifiers)

Start:
 99,282,580 bp from pter      End:
 99,286,666 bp from pter
Size:
 4,087 bases      Orientation:
 plus strand

Proteins
for POU3F2 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
UniProtKB/Swiss-Prot: PO3F2_HUMAN, P20265 (See protein sequence)
Recommended Name: POU domain, class 3, transcription factor 2  
Size: 443 amino acids; 46893 Da
Subunit: Interacts with PQBP1
Subcellular location: Nucleus
Secondary accessions: Q14960 Q86V54 Q9UJL0
Alternative initiation: 3 isoforms:  P20265-1   P20265-2   P20265-3   

Explore the universe of human proteins at neXtProt for POU3F2: NX_P20265

Explore proteomics data for POU3F2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P20265

    • POU3F2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    POU3F2 Protein Expression
    REFSEQ proteins: NP_005595.2  
    ENSEMBL proteins: 
     ENSP00000329170  

    Human Recombinant Protein Products for POU3F2: 
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    Novus Biologicals POU3F2 Proteins
    Novus Biologicals POU3F2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005667transcription factor complex IEA--

    POU3F2 for ontologies           About GeneDecksing



    POU3F2 Antibody Products: 
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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.

    Protein Domains /
    Families
    for POU3F2 gene

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

    5/7 InterPro protein domains (see all 7):
     IPR010982 Lambda_DNA-bd_dom
     IPR016362 Transcription_factor_POU
     IPR013847 POU
     IPR000327 POU_specific
     IPR017970 Homeobox_CS

    Graphical View of Domain Structure for InterPro Entry P20265

    ProtoNet protein and cluster: P20265

    2 Blocks protein domains:
    IPB000327 POU domain
    IPB013847 POU


    UniProtKB/Swiss-Prot: PO3F2_HUMAN, P20265
    Similarity: Belongs to the POU transcription factor family. Class-3 subfamily
    Similarity: Contains 1 homeobox DNA-binding domain
    Similarity: Contains 1 POU-specific domain


    POU3F2 for domains           About GeneDecksing


    Function
    for POU3F2 gene

    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PO3F2_HUMAN, P20265
    Function: Transcription factor that binds preferentially to the recognition sequence which consists of two
    distinct half-sites, ('GCAT') and ('TAAT'), separated by a nonconserved spacer region of 0, 2, or 3 nucleotides.
    Positively regulates the genes under the control of corticotropin-releasing hormone (CRH) and CRH II promoters
    (By similarity)

         Genatlas biochemistry entry for POU3F2:
    POU domain,class 3,transcription factor 2,murine brain-2 (Brn-2) homolog

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001105RNA polymerase II transcription coactivator activity IEA--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI11029584
    GO:0042802identical protein binding IPI11029584
         
    POU3F2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for POU3F2:
     Decreased Hepatitis C virus re 

         8 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Pou3f2):
     adipose tissue  cellular  endocrine/exocrine gland  growth/size  integument 
     liver/biliary system  mortality/aging  nervous system 

    POU3F2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for POU3F2: Pou3f2tm1Tno Pou3f2tm1Rsd

       inGenious Targeting Laboratory - Custom generated mouse model solutions for POU3F2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for POU3F2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for POU3F2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POU3F2 

    10/1150 SABiosciences Target genes for POU3F2 (see all 1150):
    A2ML1 AAA1 ABCB8 ABHD10 ABHD4 ABI3BP ABLIM2 ACMSD ACN9 ACPL2

    miRNA
    Products:            		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat POU3F2
    8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate POU3F2 (see all 41):
    hsa-miR-579 hsa-miR-200a hsa-miR-301a hsa-miR-138-2* hsa-miR-1304 hsa-miR-141 hsa-miR-2113 hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmid: POU3F2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for POU3F2
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for POU3F2
    Sirion Biotech Customized adenovirus for overexpression of POU3F2

    Clone
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    OriGene clones in human, mouse for POU3F2 (see all 5)
    OriGene ORF clones in mouse, rat for POU3F2
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    GenScript: all cDNA clones in your preferred vector: POU3F2 (NM_005604)
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                         Customized lentivirus expression plasmids for stable overexpression of POU3F2 

    Cell Line
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    Search LifeMap BioReagents cell lines for POU3F2
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU3F2


    Pathways & Interactions
    for POU3F2 gene

    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for POU3F2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transcription factors in neurogenesis
    		Transcription factors in neurogenesis
    2Neuroscience
    		Neuroscience
    3SIDS Susceptibility Pathways
    		SIDS Susceptibility Pathways

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for POU3F2
        Transcription factors in neurogenesis


    1 Cell Signaling Technology (CST) Pathway for POU3F2
        Neuroscience

    1 BioSystems Pathway for POU3F2
        SIDS Susceptibility Pathways



    POU3F2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for POU3F2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/12 Interacting proteins for POU3F2 (P202651, 2, 3 ENSP000003291704) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TBPP202261, 3, ENSP000002303544EBI-1167176,EBI-355371 I2D: score=3 STRING: ENSP00000230354
    PAX3P237601, 3, ENSP000003759214EBI-1167176,EBI-1167564 I2D: score=2 STRING: ENSP00000375921
    SOX10P566931, 3, ENSP000003541304EBI-1167176,EBI-1167533 I2D: score=3 STRING: ENSP00000354130
    EP300Q094721, 3, ENSP000002632534EBI-1167176,EBI-447295 I2D: score=2 STRING: ENSP00000263253
    SOX11P357163, ENSP000003225684I2D: score=1 STRING: ENSP00000322568
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0008284positive regulation of cell proliferation IDA15024079
    GO:0008544epidermis development IEA--
    GO:0014002astrocyte development IEA--

    POU3F2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for POU3F2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    POU3F2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for POU3F2 (PO3F2)

    2 Novoseek inferred chemical compound relationships for POU3F2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    l-amino acid 52.7 1 11311976 (1)
    oligonucleotide 5.21 2 8026890 (1), 9852081 (1)

    Search CenterWatch for drugs/clinical trials and news about POU3F2 / PO3F2

    Transcripts
    for POU3F2 gene

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for POU3F2 gene: 
    NM_005604.3  

    Unigene Cluster for POU3F2:

    POU class 3 homeobox 2
    Hs.182505  [show with all ESTs]
    Unigene Representative Sequence: BC051699
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000328345(uc003ppe.3)
    miRNA
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    8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate POU3F2 (see all 41):
    hsa-miR-579 hsa-miR-200a hsa-miR-301a hsa-miR-138-2* hsa-miR-1304 hsa-miR-141 hsa-miR-2113 hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmid: POU3F2 3' UTR sequence
    Inhib. RNA
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    Primer
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    Additional mRNA sequence: 

    AK095588.1 BC051699.1 Z11933.1 

    2 DOTS entries:

    DT.436597  DT.102820716 

    24 AceView cDNA sequences:

    AL119023 NM_005604 BE855760 BF983322 Z46167 F05048 F08761 BQ423615 
    Z41794 BC051699 BX645336 BE765714 F02230 Z11933 D55919 BU183021 
    BI914245 AW054773 AI655029 C15289 AL708299 F05989 AL138356 BF978474 

    GeneLoc Exon Structure


    Expression
    for POU3F2 gene

    (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

    POU3F2 expression in normal human tissues (normalized intensities)      POU3F2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    POU3F2 Expression
    About this image


    POU3F2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             Human Astrocytes   
             cortex   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             Pro-myelinating Schwann Cells Peripheral Nerve Domain
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Neuron (Nervous System)    fully expand to see all 2 entries
             Human Neurons   
     
     Eye (Sensory Organs)
             sensory organ/eye/cornea   

    See POU3F2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for POU3F2

    SOURCE GeneReport for Unigene cluster: Hs.182505

    UniProtKB/Swiss-Prot: PO3F2_HUMAN, P20265
    Tissue specificity: Expressed specifically in the neuroectodermal cell lineage

        SABiosciences Custom PCR Arrays for POU3F2
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU3F2

    Orthologs
    for POU3F2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for POU3F2 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Pou3f21 , 5 POU domain, class 3, transcription factor 21, 5 93.75(n)1
    100(a)1    		   4 (9.73 cM)5
    189921  NM_008899.21  NP_032925.11 
     224866445 
    lizard
    (Anolis carolinensis)    		 Reptilia POU3F26
    		 Uncharacterized protein
    		 76(a)
    		 1 ↔ 1
    		 1(172183708-172184733)
    African clawed frog
    (Xenopus laevis)    		 Amphibia pou3f2-A2 POU domain, class 3, transcription factor 2 80.67(n)    BC041298.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii pou472 POU domain gene 47 82.95(n)   30397  NM_131160.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta vvl3 peripheral nervous system development
    DNA binding    		 94(a)
    (best of 3)    		   3 65C5   --
    worm
    (Caenorhabditis elegans)    		 Secernentea ceh-63 Homeobox domain, Pou domain -
    N-terminal to homeobox more    		 69(a)   I(8506480-8510320)   --


    ENSEMBL Gene Tree for POU3F2 (if available)
    TreeFam Gene Tree for POU3F2 (if available)

    Paralogs
    for POU3F2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for POU3F2 gene
    POU5F22  POU6F22  POU4F22  POU2F32  POU3F12  POU3F42  POU1F12  POU3F32  
    POU4F32  POU2F22  POU5F1B2  POU4F12  POU2F12  POU6F12  POU5F12  
    13 SIMAP similar genes for POU3F2 using alignment to 1 protein entry:     PO3F2_HUMAN:
    POU6F1    POU3F4    POU1F1    POU4F3    POU5F1P4    POU3F3
    POU5F1    POU2F3    POU3F1    POU5F1P1    POU2F1    POU5F1B
    POU2F2

    POU3F2 for paralogs           About GeneDecksing



    Genomic Variants
    for POU3F2 gene

    (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) 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

    10/98 SNPs in POU3F2 are shown (see all 98)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1402400611,2
    		--99280593(+) CGCGGA/GTGCGC 1 -- us2k10--------
    rs132091381,2
    		C,F--99280657(+) CCTATC/TCATTT 1 -- us2k15Minor allele frequency- T:0.29NA EA 246
    rs1144266991,2
    		F--99280768(+) AGCCAC/GTCTCC 1 -- us2k11Minor allele frequency- G:0.05WA 118
    rs1857333321,2
    		--99280874(+) CTGAGC/GGTTGA 1 -- us2k10--------
    rs93729561,2
    		C--99280951(+) GGACGC/TGATCC 1 -- us2k10--------
    rs1911481251,2
    		--99281157(+) CGACGC/TGCCCG 1 -- us2k10--------
    rs1451985751,2
    		--99281292(+) GCCCAC/TCGAAG 1 -- us2k10--------
    rs119688221,2
    		C,A,H--99281393(+) CCAGCG/TGTAGG 1 -- us2k11Minor allele frequency- T:0.00NA 2
    rs1169993811,2
    		F--99281405(+) GCACGG/AGGAAT 1 -- us2k11Minor allele frequency- A:0.03EA 120
    rs132091541,2
    		C,F--99281407(+) ACGGGC/GAATCG 1 -- us2k12Minor allele frequency- G:0.25NA 4

    HapMap Linkage Disequilibrium report for POU3F2 (99282580 - 99286666 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for POU3F2:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv6951n71CNV Loss21882294
    nsv886433CNV Loss21882294
    nsv823787CNV Gain20364138

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    Disorders / Diseases
    for POU3F2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 OMIM gene information: 600494    OMIM disorders: --

    9 diseases for POU3F2:    About MalaCards
    merkel cell carcinoma    microphthalmia    melanoma    retinoblastoma
    neuroblastoma    neuronitis    glioblastoma    schizophrenia
    cerebritis

    1 disease from the University of Copenhagen DISEASES database for POU3F2:
    Melanoma

    POU3F2 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for POU3F2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 61.8 33 18923447 (5), 7651733 (4), 18781132 (3), 15024080 (3) (see all 12)
    microphthalmia 50.2 2 7651733 (1), 7478537 (1)
    tumors 0 3 18781132 (1), 18829533 (1), 7651733 (1)

    Genetic Association Database (GAD): POU3F2
    Human Genome Epidemiology (HuGE) Navigator: POU3F2 (2 documents)

    Export disorders for POU3F2 gene to outside databases

    Publications
    for POU3F2 gene

    (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 POU3F2 gene, integrated from 9 sources (see all 67):
    (articles sorted by number of sources associating them with POU3F2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning of human N-Oct3, a nervous-system specific POU domain transcription factor binding to the octamer DNA motif. (PubMed id 8441633)1, 2, 3 Schreiber E.... Fontana A. (1993)
    2. The brn-2 gene regulates the melanocytic phenotype and tumorigenic potential of human melanoma cells. (PubMed id 7651733)1, 2, 9 Angus J.... Sturm R.A. (1995)
    3. Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype. (PubMed id 16858508)1, 4, 9 Costa M.d.o. .C....Maciel P. (2006)
    4. PQBP-1, a novel polyglutamine tract binding protein, inhibits transcription activation by Brn-2 and affects cell survival. (PubMed id 10332029)1, 2, 9 Waragai M.... Okazawa H. (1999)
    5. A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype. (PubMed id 19023125)1, 4 Potkin S.G....Macciardi F. (2009)
    6. 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)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    8. Expression of a large family of POU-domain regulatory genes in mammalian brain development. (PubMed id 2739723)1, 2 He X....Rosenfeld M.G. (1989)
    9. Isolation of the human genomic brain-2/N-Oct 3 gene (POUF3) and assignment to chromosome 6q16. (PubMed id 7601453)1, 9 Atanasoski S....Fontana A. (1995)
    10. SOX9 and SOX10 but not BRN2 are required for nestin expression in human melanoma cells. (PubMed id 18923447)1, 9 Flammiger A....Berking C. (2009)

    External Searches for POU3F2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing POU3F2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5454 HGNC: 9215 AceView: POU3F2 Ensembl:ENSG00000184486 euGenes: HUgn5454
    ECgene: POU3F2 H-InvDB: POU3F2

    Other Databases showing POU3F2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing POU3F2 gene

    (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 POU3F2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for POU3F2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for POU3F2 gene:
    Search GeneIP for patents involving POU3F2

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



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    About This Section

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