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FLASH GENE
Symbol POU3F4 contributors: mct - updated : 06-01-2021
HGNC name POU domain, class 3, transcription factor 4
HGNC id 9217
Corresponding disease
DFN3 deafness, mixed conductive and/or neurosensory, 3
Location Xq21.1      Physical location : 82.763.268 - 82.764.775
Synonym name
  • brain -4
  • octamer-binding transcription factor 9
  • brain-specific homeobox/POU domain protein 4
  • Synonym symbol(s) BRN4, OTF9, BRAIN-4, DFN3
    DNA
    TYPE functioning gene
    STRUCTURE 1.51 kb     1 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    text structure
  • enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing )
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 1507 - 361 - 2010 20668882
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea   Homo sapiens
    Nervousbrainbasal nucleistriatum   Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text Rathke pouch, at an early stage of pituitary development,cochlea
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a POU specific domain
  • a POU homeo (helix-turn-helix) domains
  • HOMOLOGY
    interspecies homolog to murine Brn4 (sex-linked fidget phenotype)
    homolog to Drosophila bicoid r
    homolog to C.elegans K02b12.1
    intraspecies homolog to POU3F1
    Homologene
    FAMILY
  • POU transcription factor family
  • class- 3 subfamily
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • involved in mesenchymal-mesenchymal signaling for the development of inner ear
  • transcription factor which exert its primary action widely during early neural development and in a very limited set of neurons in the mature brain
  • has a critical role in the neuronal differentiation of mesencephalic neural stem cells and the maturation of newborn neurons
  • POU-domain transcription factor required for inner ear development
  • implicated in the regeneration and repair of denervated striatum
  • prominent role in inner ear development
  • POU3F4 in the otic mesenchyme establishes an EPH/ephrin-mediated fasciculation signal that promotes inner radial bundle formation
  • in the ear, POU3F4 is essential for mesenchymal remodeling of the bony labyrinth
  • POU3F4 and TH synergistically promote the differentiation of neural stem cells into dopaminergic neurons
  • POU3F4 likely substantially contributes to cochlear gap junction properties to maintain the proper endocochlear potential (EP) in cochleae, similar to connexin-related deafness
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text histogenesis and organogenesis
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • genetic interaction between TBX1 and POU3F4 relevant to human disease, indicating a function of these genes in signaling from the periotic mesenchyme to the otic vesicle to direct proper coiling of the cochlear duct
  • POU3F4 binds to and directly regulates expression of EPHA4 (
  • CTBP2 and NOTCH2 are possible downstream targets of POU3F4
  • promoted the neuronal differentiation of Neural stem cells (NSCs) via inhibition of CTBP2
  • cell & other
    REGULATION
    Other expressed with POMC in a subset of adult anterior pituitary cells
    ASSOCIATED DISORDERS
    corresponding disease(s) DFN3
    related resource Hereditary Hearing Loss Homepage
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerative 
    may be utilized to manipulate neural stem cells for gene and cell therapy of several neurological diseases
    neurologyneurodegenerative 
    is a potential tool for generating neurons in cell replacement therapy of neurodegenerative diseases and brain injury
    ANIMAL & CELL MODELS
  • Brn4-deficient mice have a low endocochlear potential (EP), hearing loss, and ultrastructural alterations in spiral ligament fibrocytes
  • mouse mutant "sex-linked fidget" (SIF)
  • p.Ile285Argfs*43 and p.Cys300* mutations lead to a shift of Pou3f4 nuclear localization to the cytoplasm, demonstrated in cellular localization studies and in the inner ears of the mutant mice