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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
    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
    Physical map
    IL1RL1 2q12 interleukin 1 receptor-like 1 IL18R1 2q12 interleukin 18 receptor 1 IL18RAP 2p24.3-p24.1 interleukin 18 receptor accessory protein LOC389015 2 similar to Sodium/hydrogen exchanger 4 (Na(+)/H(+) exchanger 4) (NHE-4) SLC9A2 2q11.2 solute carrier family 9 (sodium/hydrogen exchanger), isoform 2 MGC11332 2q12.1 hypothetical protein MGC11332 FLJ30294 2q12.1 hypothetical protein FLJ30294 LOC130822 2q12.1 similar to cytokine receptor-like factor 3; cytokine receptor-like molecule 9; cytokine receptor related protein 4 LOC391413 2 similar to Adenosylhomocysteinase (S-adenosyl-L-homocysteine hydrolase) (AdoHcyase) LOC391414 2 similar to high mobility group protein homolog HMG4 POU3F3 3p14.2 POU domain, class 3, transcription factor 3 MRPS9 2q12.1 mitochondrial ribosomal protein S9 GPR45 2q11.2-q12 G protein-coupled receptor 45 TGFBRAP1 2q12.1 transforming growth factor, beta receptor associated protein 1 MGC5509 2q12.2 hypothetical protein MGC5509 FHL2 2q12-q13 four and a half LIM domains 2 NCK2 2q12 NCK adaptor protein 2 ECRG4 2q12.2 esophageal cancer related gene 4 protein UXS1 2q12.1 UDP-glucuronate decarboxylase 1 LOC391415 2 similar to ribosomal protein S21; 40S ribosomal protein S21 LOC391416 2 similar to hypothetical protein MGC4614 LOC389016 2 similar to RAN-binding protein 2-like 1 isoform 1; sperm membrane protein BS-63; RAN-binding protein 2-like 1 LOC391417 2 similar to anaphase-promoting complex 1 (meiotic checkpoint regulator) CD8B2 2q12 CD8 antigen, beta polypeptide 2, pseudogene (p37) LOC389017 2 similar to Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor 1 A-1) (eEF1A-1) (Elongation factor Tu) (EF-Tu) LOC389018 2 similar to Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor 1 A-1) (eEF1A-1) (Elongation factor Tu) (EF-Tu) ST6GalII 2q11.2-q12.1 beta-galactoside alpha-2,6-sialyltransferase II LOC339819 2q12.3 similar to protein phosphatase 1, regulatory (inhibitor) subunit 2
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 4460 50.3 500 - 2014 24550763
    Type restricted
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebrain    Homo sapiensFetal
    Reproductivemale systemtestis   
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral    Homo sapiens
    cell lineage
    cell lines
    at STAGE
  • 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
    interspecies homolog to murine Pou3f3/Brn1
    homolog to rattus Pou3f3
    homolog to C.elegans k02b12.1
    intraspecies paralog to POU3F2
  • class III POU homeodomain family of transcription factors
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    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
    a component
    DNA binding to the octamer motif ATGCAAAT
    small molecule
  • 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
    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
    Variant & Polymorphism
    Candidate gene
    Therapy target
    potential therapeutic strategy for hepatocellular carcinoma patients
    function as a putative therapeutic target in glioma
  • 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