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FLASH GENE
Symbol POU4F3 contributors: mct - updated : 07-12-2011
HGNC name POU class 4 homeobox 3
HGNC id 9220
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