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

POU3F4 Gene

protein-coding   GIFtS: 59
GCID: GC0XP082763

POU Class 3 Homeobox 4

(Previous names: POU domain class 3, transcription factor 4)
(Previous symbol: DFN3)
  14 related diseases
at
MalaCards
 

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)
About This Section
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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 x-linked nonsyndromic deafness, and pancreatic endocrine tumor. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_011651.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for POU3F4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: PO3F4_HUMAN, P49335 (See protein sequence)
Recommended Name: POU domain, class 3, transcription factor 4  
Size: 361 amino acids; 39427 Da
Subcellular location: Nucleus
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P49335

    • POU3F4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    POU3F4 Protein Expression
    REFSEQ proteins: NP_000298.3  
    ENSEMBL proteins: 
     ENSP00000362296  

    Human Recombinant Protein Products for POU3F4: 
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    Novus Biologicals POU3F4 Protein
    Novus Biologicals POU3F4 Lysates
    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:0005622intracellular ----
    GO:0005634nucleus IEA--

    POU3F4 for ontologies           About GeneDecksing



    POU3F4 Antibody Products: 
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    Protein 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
    		 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 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    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 (GO ID links to tree view):    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:
         Mouse knock-out Pou3f4tm1Tno for POU3F4
       inGenious Targeting Laboratory - Custom generated mouse model solutions for POU3F4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for POU3F4

    miRNA
    Products:        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat POU3F4
    3 QIAGEN miScript miRNA 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
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    OriGene RNAi products in human, mouse, rat for POU3F4
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    Sirion Biotech Custom design and validation of potent shRNA sequences against POU3F4

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of POU3F4
                         Customized adenovirus for potent knockdown of POU3F4

    Clone
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    OriGene ORF clones in mouse, rat for POU3F4
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    GenScript: all cDNA clones in your preferred vector: POU3F4 (NM_000307)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POU3F4

    Cell Line
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    Search LifeMap BioReagents cell lines for POU3F4
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                         Customized inducible knockdown cell line services for POU3F4
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU3F4


    Pathways & Interactions
    for POU3F4 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 POU3F4 About                                                                                                See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for POU3F4
        Transcription factors in neurogenesis




    POU3F4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for POU3F4

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

    5/8 Interacting proteins for POU3F4 (P493353 ENSP000003622964) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    POU3F1Q030523, ENSP000003621034I2D: score=2 STRING: ENSP00000362103
    HNRNPUQ008393, ENSP000002831794I2D: score=2 STRING: ENSP00000283179
    POU3F2P202653, ENSP000003291704I2D: score=3 STRING: ENSP00000329170
    POU3F3P202643, ENSP000003550014I2D: score=3 STRING: ENSP00000355001
    POU4F3Q153193I2D: score=2 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent ----
    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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for POU3F4 (PO3F4)

    Search CenterWatch for drugs/clinical trials and news about 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat POU3F4
    3 QIAGEN miScript miRNA 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
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POU3F4
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat POU3F4
      QIAGEN 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:

    AI939397 X82324 AK127471 NM_000307 AI199744 AI928745 

    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™, 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

    POU3F4 expression in normal human tissues (normalized intensities)      POU3F4 embryonic expression: see
    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 
     5/8 selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 21 entries
             Thalamus
             Septum
     
     Pancreas (Endocrine System)    fully expand to see all 5 entries
             Alpha Cells Islets of Langerhans
     
     Spinal Cord (Nervous System)    fully expand to see all 3 entries
             Dorsal Horn
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Bone (Muscoskeletal System)
             sensory organ/ear/inner ear

    See POU3F4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for POU3F4

    SOURCE GeneReport for Unigene cluster: Hs.2229

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including POU3F4: 
              Terminal Differentiation Markers in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

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    In Situ
    Assay Products:     
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    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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for POU3F4 gene from 4/9 species (see all 9)    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 91.78(n)1
    98.61(a)1    		   X (48.20 cM)5
    189941  NM_008901.11  NP_032927.11 
     1108142805 
    African clawed frog
    (Xenopus laevis)    		 Amphibia POU2 POU 2 transcription factor 82.62(n)    U17654.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta vvl3 peripheral nervous system development DNA
    binding    		 80(a)
    (best of 3)    		   3 65C5   --
    worm
    (Caenorhabditis elegans)    		 Secernentea ceh-63 Homeobox domain, Pou domain - N-terminal to
    homeobox more    		 74(a)   I(8506480-8510320)   --


    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)
    About This Section
    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
    POU2F3    POU3F1    POU3F2    POU5F1B    POU5F1P1    POU2F1
    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) 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

    10/84 SNPs in POU3F4 are shown (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
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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.)
    About This Section
    POU3F4 for disorders           About GeneDecksing

    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

    14 diseases for POU3F4:    About MalaCards
    x-linked nonsyndromic deafness    pancreatic endocrine tumor    deafness, x-linked 2    developmental delay - deafness, hildebrand type
    dfnx2 nonsyndromic hearing loss and deafness    choroideremia    nonsyndromic deafness    sensorineural hearing loss
    multiple endocrine neoplasia    choroiditis    medulloblastoma    neuronitis
    mental retardation    pancreatitis

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

    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)
    About This Section

    PubMed articles for POU3F4 gene, integrated from 9 sources (see all 51):
    (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. (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. (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. (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. (1998)
    5. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (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. (1994)
    7. Clinical and molecular characterizations of novel POU 3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein. (PubMed id 19671658)1, 9 Lee H.K....Kim U.K. (2009)
    8. Phenotype and genotype in females with POU3F4 mutatio ns. (PubMed id 19930154)1, 9 Marlin S....Toutain A. (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. (2009)
    10. Destabilization and Mislocalization of POU3F4 by C-Ter minal Frameshift Truncation and Extension Mutation. (PubMed id 23076972)1 Choi B.Y....Park W.Y. (2013)

    External Searches for POU3F4 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    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
    		   --

    Specialized Databases showing POU3F4 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 POU3F4 Pharmacogenomics, SNPs, Pathways
    Hereditary hearing loss homepagehttp://webhost.ua.ac.be/hhh/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/POU3F4

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

    GeneCards and IP:
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