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FLASH GENE
Symbol POU4F3 contributors: mct - updated : 07-12-2011
HGNC name POU class 4 homeobox 3
HGNC id 9220
Corresponding disease
DFNA15 neurosensory deafness 15
Location 5q32      Physical location : 145.718.586 - 145.720.083
Synonym name
  • brain-specific homeobox /POU domain protein 3C
  • POU domain, class 4, transcription factor 3
  • brain-3C
  • Synonym symbol(s) BRN3C, MGC138412
    DNA
    TYPE functioning gene
    STRUCTURE 1.33 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    motif repetitive sequence
    text structure at least two repeat polymorphisms &
    8722; 3432 poly-G polymorphism and &
    8722; 566(GT)n interact to influence activity of a newly identified SP1 regulatory element
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1182 - 338 - 2004 15465029
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumcochlea cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text cochlea
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • POU specific and homeo (helix-turn-helix) domains
  • HOMOLOGY
    interspecies homolog to C.elegans c30a5.7a
    Homologene
    FAMILY
  • POU transcription factor family
  • class- 4 subfamily
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • playing a role in determining or maintaining the identities of a small subset of visual system neurons
  • playing a crucial role for the mature differentiation and survival of inner ear sensory hair cells
  • may play a role in regulating neurotrophin gene expression in the inner ear
  • essential for the survival of auditory sensory hair cells and several mutations in human POU4F3 cause hearing loss
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    text neural deveopment (neurogenesis eye morphogenesis)
    PATHWAY
    metabolism
    signaling sensory transduction/hearing , sensory transduction/vision
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • interacting with GFI1 (target of POU3F4)
  • interacting with BDNF, and NTF3
  • CAPRIN1 is downregulated by POU4F3
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNA15
    related resource Hereditary Hearing Loss Homepage
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS