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FLASH GENE
Symbol POU3F3 contributors: mct/npt - updated : 11-09-2019
HGNC name POU class 3 homeobox 3
HGNC id 9216
Corresponding disease
NDDEA neurodevelopmental disorder with ears anomalies
Location 2q12.1      Physical location : 105.471.968 - 105.473.470
Synonym name
  • brain-specific homeobox/POU domain protein 1
  • POU domain, class 3, transcription factor 3
  • octamer-binding protein 8
  • octamer-binding transcription factor 8
    • Synonym symbol(s) BRN1, OTF8, brain-1, oct-8
    DNA
    TYPE functioning gene
    STRUCTURE 4.46 kb     1 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure intronless
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 4460 50.3 500 - 2014 24550763
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebrain    Homo sapiensFetal
    Reproductivemale systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • POU homeo (helix-turn-helix) domains, required for high affinity binding to octamer DNA sequences
  • a homeobox DNA-binding domain
    • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Pou3f3/Brn1
    homolog to rattus Pou3f3
    homolog to C.elegans k02b12.1
    intraspecies paralog to POU3F2
    Homologene
    FAMILY
  • class III POU homeodomain family of transcription factors
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • having a transcription factor activity
  • expression of SOX11 and POU3F3 may be modulated by the cell-type specific machinery
  • may be important for the maintenance or functional development of the postnatal cochlea
  • POU3F3 and POU3F2 (Brn1 and Brn2) are known to label postmitotic upper-layer cells, and are redundantly required for their production
  • critically involved in development of distinct nephron segments, including the thick ascending limb of the loop of Henle (TAL)
  • plays an oncogenic role in hepatocellular carcinoma
  • share important roles in neurodevelopment with its close paralog POU3F2
  • transcription factor involved in the development of the central nervous system, with essential functions for normal brain development
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development , nervous system
    text playing a role in neurogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to the octamer motif ATGCAAAT
    RNA
    small molecule
    protein
  • POU3F2, POU3F3 influence multiple stages of neurogenesis by suppressing Notch effector HES5, and promoting the expression of proneural transcription factors EOMES and TBR1
  • contributes to the development of esophageal squamous cell carcinoma (ESCC) by interacting with EZH2 to promote methylation of POU3F3, which encodes a transcription factor
  • may promote cancer cell proliferation in prostate carcinoma by upregulating ROCK1
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NDDEA
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in esophageal squamous-cell carcinomas
    tumoral       gain of function
    in glioma tissue and significantly correlated with the advanced tumor stage
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveliver
    potential therapeutic strategy for hepatocellular carcinoma patients
    cancerbrain 
    function as a putative therapeutic target in glioma
    ANIMAL & CELL MODELS
  • knock-out Brn1 mouse
  • deficiency of Pou3f3 in knock-out mice leads to underdevelopment of the TAL, lack of differentiation of TAL cells, and perinatal death due to renal failure