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POU3F4 Gene

protein-coding   GIFtS: 58
GCID: GC0XP082763

POU Class 3 Homeobox 4

(Previous names: POU domain class 3, transcription factor 4)
(Previous symbol: DFN3)
  See related diseases
at
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Aliases
for POU3F4 gene

(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 3 Homeobox 41 2     POU Domain Class 3, Transcription Factor 41
DFN31 2 5     BRAIN-42
Brain-Specific Homeobox/POU Domain Protein 42 3     BRN-42
Octamer-Binding Transcription Factor 92 3     OCT-92
BRN42 3     POU Domain, Class 3, Transcription Factor 42
OTF-92 3     Brain-43
OTF92 3     Brn-43
DFNX22 5     Oct-93
brain-41     Octamer-Binding Protein 93

External Ids:    HGNC: 92171   Entrez Gene: 54562   Ensembl: ENSG000001967677   OMIM: 3000395   UniProtKB: P493353   

Export aliases for POU3F4 gene to outside databases

Previous GC identifers: GC0XP078143 GC0XP079839 GC0XP080799 GC0XP081535 GC0XP082569 GC0XP076337


Summaries
for POU3F4 gene

(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 POU3F4 Gene:
This gene encodes a member of the POU-III class of neural transcription factors. This family member plays a role
in inner ear development. The protein is thought to be involved in the mediation of epigenetic signals which
induce striatal neuron-precursor differentiation. Mutations in this gene are associated with X chromosome-linked
nonsyndromic mixed deafness. (provided by RefSeq, Dec 2012)

GeneCards Summary for POU3F4 Gene:
POU3F4 (POU class 3 homeobox 4) is a protein-coding gene. Diseases associated with POU3F4 include deafness, x-linked 2, and x-linked nonsyndromic deafness. GO annotations related to this gene include AT DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is POU5F2.

UniProtKB/Swiss-Prot: PO3F4_HUMAN, P49335
Function: Probable transcription factor which exert its primary action widely during early neural development and
in a very limited set of neurons in the mature brain

Gene Wiki entry for POU3F4 Gene


Genomic Views
for POU3F4 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_000023.11  NC_018934.2  NT_011651.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the POU3F4 gene promoter:
         Sox5   CBF-C   E47   HNF-1A   Gfi-1   CBF-B   HNF-1   CP1A   CP1C   NF-Y   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: POU3F4 promoter sequence
   Search Chromatin IP Primers for POU3F4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POU3F4


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

Entrez Gene cytogenetic band: Xq21.1   Ensembl cytogenetic band:  Xq21.1   HGNC cytogenetic band: Xq21.1

POU3F4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POU3F4 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP082763:  view genomic region     (about GC identifiers)

Start:
 82,763,269 bp from pter      End:
 82,764,775 bp from pter
Size:
 1,507 bases      Orientation:
 plus strand

Proteins
for POU3F4 gene

(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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PO3F4_HUMAN, P49335 (See protein sequence)
Recommended Name: POU domain, class 3, transcription factor 4  
Size: 361 amino acids; 39427 Da
Secondary accessions: B2RC71 Q5H9G9 Q99410

Explore the universe of human proteins at neXtProt for POU3F4: NX_P49335

Explore proteomics data for POU3F4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

    • See POU3F4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000298.3  
    ENSEMBL proteins: 
     ENSP00000362296  

    POU3F4 Human Recombinant Protein Products:

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    OriGene Purified Protein for POU3F4
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    Novus Biologicals POU3F4 Protein
    Novus Biologicals POU3F4 Lysates
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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

    POU3F4 Antibody Products:

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    Abcam antibodies for POU3F4
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    ThermoFisher Antibodies for POU3F4
    LSBio Antibodies in human, mouse, rat for POU3F4

    POU3F4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse CLIAs at Cloud-Clone Corp.

    Domains /
    Families
    for POU3F4 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 HGNC Gene Families:
    POU: Homeoboxes / POU class

    Selected 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 P49335

    ProtoNet protein and cluster: P49335

    2 Blocks protein domains:
    IPB000327 POU domain
    IPB013847 POU


    UniProtKB/Swiss-Prot: PO3F4_HUMAN, P49335
    Similarity: Belongs to the POU transcription factor family. Class-3 subfamily
    Similarity: Contains 1 homeobox DNA-binding domain
    Similarity: Contains 1 POU-specific domain


    POU3F4 for domains           About GeneDecksing


    Function
    for POU3F4 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,
    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: PO3F4_HUMAN, P49335
    Function: Probable transcription factor which exert its primary action widely during early neural development and
    in a very limited set of neurons in the mature brain

         Genatlas biochemistry entry for POU3F4:
    murine Brn4 (sex-linked fidget phenotype) ortholog,POU domain,class 3,transcription factor 4,mammalian homeo box
    backfoot,Drosophila bicoid related,expressed in Rathke pouch,at an early stage of pituitary development and in a
    subset of adult anterior pituitary cells that express POMC,involved in mesenchymal-mesenchymal signaling for the
    development of inner ear

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003680AT DNA binding IEA--
    GO:0003690double-stranded DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding ----
         
    POU3F4 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Pou3f4):
     behavior/neurological  craniofacial  hearing/vestibular/ear  integument  skeleton 

    POU3F4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pou3f4tm1Tno for POU3F4

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POU3F4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for POU3F4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for POU3F4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POU3F4

    miRNA
    Products:            		Block miRNA regulation of human, mouse, rat POU3F4 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate POU3F4:
    hsa-miR-186 hsa-miR-937 hsa-miR-1825
    SwitchGear 3'UTR luciferase reporter plasmid: POU3F4 3' UTR sequence
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for POU3F4
    Predesigned siRNA for gene silencing in human, mouse, rat POU3F4

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for POU3F4

    Clone
    Products:             		 OriGene clones in human, mouse for POU3F4 (see all 5)
    OriGene ORF clones in mouse, rat for POU3F4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: POU3F4 (NM_000307)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POU3F4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POU3F4

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for POU3F4 
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU3F4


    Localization
    for POU3F4 gene

    (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
    PO3F4_HUMAN, P49335: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--

    POU3F4 for ontologies           About GeneDecksing


    Pathways & Interactions
    for POU3F4 gene

    (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 POU3F4 About    
    See pathways by source

    SuperPathContained pathways About
    1Transcription factors in neurogenesis
    Transcription factors in neurogenesis



        Pathway & Disease-focused RT2 Profiler PCR Arrays including POU3F4: 
              Terminal Differentiation Markers in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for POU3F4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for POU3F4 (P493353 ENSP000003622964) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    POU3F1Q030523, ENSP000003621034I2D: score=2 STRING: ENSP00000362103
    POU4F3Q153193, ENSP000002307324I2D: score=2 STRING: ENSP00000230732
    ALX4Q9H1613, ENSP000003327444I2D: score=1 STRING: ENSP00000332744
    FGFR2P218023, ENSP000004102944I2D: score=1 STRING: ENSP00000410294
    HNRNPUQ008393, ENSP000002831794I2D: score=2 STRING: ENSP00000283179
    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:0006366transcription from RNA polymerase II promoter IEA--
    GO:0007605sensory perception of sound IEA--
    GO:0021879forebrain neuron differentiation IEA--
    GO:0048839inner ear development ----

    POU3F4 for ontologies           About GeneDecksing



    Drugs & Compounds
    for POU3F4 gene

    (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 POU3F4 (PO3F4)



    Transcripts
    for POU3F4 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,
    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 POU3F4 gene: 
    NM_000307.4  

    Unigene Cluster for POU3F4:

    POU class 3 homeobox 4
    Hs.2229  [show with all ESTs]
    Unigene Representative Sequence: NM_000307
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000373200(uc004eeg.2)
    miRNA
    Products:             		 Block miRNA regulation of human, mouse, rat POU3F4 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate POU3F4:
    hsa-miR-186 hsa-miR-937 hsa-miR-1825
    SwitchGear 3'UTR luciferase reporter plasmid: POU3F4 3' UTR sequence
    Inhib. RNA
    Products:             		OriGene RNAi products in human, mouse, rat for POU3F4
    Predesigned siRNA for gene silencing in human, mouse, rat POU3F4
    Clone
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    OriGene ORF clones in mouse, rat for POU3F4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: POU3F4 (NM_000307)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POU3F4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POU3F4
    Primer
    Products:            		OriGene qSTAR qPCR primer pairs in human, mouse for POU3F4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat POU3F4
      QuantiTect SYBR Green Assays in human, mouse, rat POU3F4
      QuantiFast Probe-based Assays in human, mouse, rat POU3F4

    Additional mRNA sequence: 

    AK314967.1 X82324.1 

    1 DOTS entry:

    DT.203102 

    6 AceView cDNA sequences:

    NM_000307 X82324 AI939397 AK127471 AI928745 AI199744 

    GeneLoc Exon Structure


    Expression
    for POU3F4 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™, 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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    POU3F4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCTCTGACT
    POU3F4 Expression
    About this image


    POU3F4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 4 entries
             Alpha Progenitor Cells Dorsal Pancreatic Bud
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebellum
             Oligodendrocyte progenitor cells
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     NULL (Uncategorized)
             Neural rosettes
     
     Spinal Cord (Nervous System)
             Oligodendrocyte progenitor cells
    POU3F4 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    POU3F4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.2229

    UniProtKB/Swiss-Prot: PO3F4_HUMAN, P49335
    Tissue specificity: Brain specific

        Pathway & Disease-focused RT2 Profiler PCR Arrays including POU3F4: 
              Terminal Differentiation Markers in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat POU3F4
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU3F4

    Orthologs
    for POU3F4 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)
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    This gene was present in the common ancestor of animals.

    Orthologs for POU3F4 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Pou3f41 , 5 POU domain, class 3, transcription factor 41, 5 91.97(n)1
    98.89(a)1    		   X (48.20 cM)5
    189941  NM_008901.11  NP_032927.11 
     1108142805 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 71(a)
    		 many ↔ many
    		 GL343202.1(520000-521070)
    African clawed frog
    (Xenopus laevis)    		 Amphibia POU2 POU 2 transcription factor 82.62(n)    U17654.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii pou3f16
    		 POU class 3 homeobox 1
    		 55(a)
    		 many ↔ many
    		 16(35906777-35909646) ENSDARG00000009823
    fruit fly
    (Drosophila melanogaster)    		 Insecta vvl3 peripheral nervous system development
    DNA binding    		 80(a)
    (best of 3)    		   3 65C5   --


    ENSEMBL Gene Tree for POU3F4 (if available)
    TreeFam Gene Tree for POU3F4 (if available)

    Paralogs
    for POU3F4 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POU3F4 gene
    POU5F22  POU6F22  POU4F22  POU2F32  POU3F12  POU1F12  POU3F32  POU4F32  
    POU3F22  POU2F22  POU5F1B2  POU4F12  POU2F12  POU6F12  POU5F12  
    16 SIMAP similar genes for POU3F4 using alignment to 1 protein entry:     PO3F4_HUMAN:
    OCT6    POU1F1    POU6F1    POU5F1    OCT-2    POU5F1P4
    POU3F1    POU3F2    POU5F1B    POU5F1P1    POU2F1    POU2F3
    POU3F3    POU4F3    POU5F2    POU2F2

    POU3F4 for paralogs           About GeneDecksing



    Genomic Variants
    for POU3F4 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), 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)
    About This Section

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    Selected SNPs for POU3F4 (see all 84)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0037854
    		Deafness, X-linked, 2 (DFNX2)4--see VAR_0037852 R S mis40--------
    VAR_0037864
    		Deafness, X-linked, 2 (DFNX2)4--see VAR_0037862 K E mis40--------
    VAR_0037844
    		Deafness, X-linked, 2 (DFNX2)4--see VAR_0037842 R G mis40--------
    VAR_0037834
    		Deafness, X-linked, 2 (DFNX2)4--see VAR_0037832 L W mis40--------
    VAR_0037824
    		Deafness, X-linked, 2 (DFNX2)4--see VAR_0037822 A V mis40--------
    rs1048949201,2
    		Cpathogenic182736820(+) AATTCA/TAACAA 2 K * stg10--------
    rs1048949211,2
    		Cpathogenic182737165(+) CCAGTG/TGGAGA 2 W L mis10--------
    rs1048949241,2
    		Cpathogenic182737182(+) TGGTGC/GGTGTC 2 R G mis10--------
    rs1048949221,2
    		Cpathogenic182737215(+) AAGAGA/GAAAGA 2 K E mis10--------
    rs1999821921,2
    		--82734158(+) GTAAA-/GGAATG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for POU3F4 (82763269 - 82764775 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for POU3F4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv510842CNV Loss20534489

    Human Gene Mutation Database (HGMD): POU3F4
    Locus Specific Mutation Databases (LSDB): POU3F4

    Site Specific Mutation Identification with PCR Assays
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    Disorders / Diseases
    for POU3F4 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.)
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    OMIM gene information: 300039   
    OMIM disorders: 304400  
    UniProtKB/Swiss-Prot: PO3F4_HUMAN, P49335
  • Deafness, X-linked, 2 (DFNX2) [MIM:304400]: A form of deafness characterized by both conductive hearing
    loss resulting from stapes (perilymphatic gusher) fixation, and progressive sensorineural deafness. Note=The
    disease is caused by mutations affecting the gene represented in this entry

    • Selected diseases for POU3F4 (see all 21):    
    About MalaCards
    deafness, x-linked 2    x-linked nonsyndromic deafness    developmental delay - deafness, hildebrand type    dfnx2 nonsyndromic hearing loss and deafness
    pancreatic endocrine tumors    deafness and hereditary hearing loss    choroideremia    nonsyndromic deafness
    sensorineural hearing loss    labyrinthitis    nonsyndromic hearing loss and deafness    multiple endocrine neoplasia
    choroiditis    medulloblastoma    alcohol dependence    neuronitis
    mental retardation    pancreatitis    multiple myeloma    myeloma

    3 diseases from the University of Copenhagen DISEASES database for POU3F4:
    Nonsyndromic deafness     Choroideremia     Sensorineural hearing loss

    POU3F4 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for POU3F4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hearing loss sensorineural 55 1 16735904 (1)
    chromosomal aberrations 17.3 1 8589693 (1)

    Genetic Association Database (GAD): POU3F4

    Export disorders for POU3F4 gene to outside databases

    Publications
    for POU3F4 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)
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    PubMed articles for POU3F4 gene, integrated from 10 sources (see all 52):
    (articles sorted by number of sources associating them with POU3F4)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. (PubMed id 7839145)1, 2, 4, 9 de Kok Y.J.M.... Cremers F.P.M. (Science 1995)
    2. Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X- linked deafness, DFN3. (PubMed id 7581392)1, 2, 3 Bitner-Glindzicz M.... Malcolm S. (Hum. Mol. Genet. 1995)
    3. The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation. (PubMed id 9298820)1, 2, 9 de Kok Y.J.M.... Cremers F.P.M. (Hum. Mutat. 1997)
    4. A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3). (PubMed id 9778298)1, 2, 9 Hagiwara H.... Kodera K. (Laryngoscope 1998)
    5. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    6. The brain-specific POU-box gene Brn4 is a sex-linked transcription factor located on the human and mouse X chromosomes. (PubMed id 7911044)1, 3 Douville P.J....Schwab M.E. (Mamm. Genome 1994)
    7. Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein. (PubMed id 19671658)1, 9 Lee H.K....Kim U.K. (Physiol. Genomics 2009)
    8. Phenotype and genotype in females with POU3F4 mutations. (PubMed id 19930154)1, 9 Marlin S....Toutain A. (Clin. Genet. 2009)
    9. Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants. (PubMed id 19438930)1, 9 Lee H.K....Kim U.K. (Clin. Genet. 2009)
    10. Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutation. (PubMed id 23076972)1 Choi B.Y....Park W.Y. (Hum. Mutat. 2013)

    External Searches for POU3F4 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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    Genome Databases showing POU3F4 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 5456 HGNC: 9217 AceView: POU3F4 Ensembl:ENSG00000196767 euGenes: HUgn5456
    ECgene: POU3F4 H-InvDB: POU3F4

    Other Databases showing POU3F4 gene

    (According to HUGE)
    About This Section

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    Specialized Databases showing POU3F4 gene

    (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 POU3F4 Pharmacogenomics, SNPs, Pathways
    Hereditary hearing loss homepagehttp://webhost.ua.ac.be/hhh/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=POU3F4[genesymbol]

    Intellectual Property
    for POU3F4 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for POU3F4 gene:
    Search GeneIP for patents involving POU3F4

    GeneCards and IP:
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