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FLASH GENE
Symbol POU3F2 contributors: mct/shn - updated : 05-07-2023
HGNC name POU class 3 homeobox 2
HGNC id 9215
Corresponding disease
NDDOTSA neurodevelopmental delay (NDD), obesity and autism spectrum disorder
Location 6q16.1      Physical location : 99.282.579 - 99.286.665
Synonym name
  • POU domain, class 3, transcription factor 2
  • brain-2
  • brain-specific homeobox/POU domain protein 2
  • nervous system-specific octamer-binding transcription factor N-Oct-3
  • octamer-binding protein 7
  • octamer-binding transcription factor 7
  • Synonym symbol(s) BRN2, POUF3, OCT7, OTF7, N-Oct 3
    DNA
    TYPE functioning gene
    STRUCTURE 4.09 kb     1 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D6S1284 - D6S1716 - POU3F2 - D6S1717 - D6S1565 - qter
    Authors UCSC (2009)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 4885 46.9 443 - 2023 37207645
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbraindiencephalonhypothalamus   Homo sapiens
     brain   moderately Mus musculusAdult
     brainlimbic systemhippocampus   Homo sapiens
     brainforebrain    Homo sapiensFetal
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral    Homo sapiens
    cell lineage
    cell lines expressed in melanocytes
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a POU-specific domain
  • an homeobox DNA-binding domain
  • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies ortholog to Pou3f2, Mus musculus
    ortholog to Pou3f2, Rattus norvegicus
    ortholog to pou3f2, Danio rerio
    ortholog to POU3F2, Pan troglodytes
    intraspecies paralog to POU3F3
    Homologene
    FAMILY
  • POU transcription factor family
  • Class-3 subfamily
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • positively regulating the genes under the control of corticotropin-releasing hormone (CRM) and CRM II promoters
  • playing a role in mammalian neurogenesis by regulating their diverse patterns of gene expression
  • BRN2 and its phosphorylation are involved in the migration and proliferation of cells of the melanocyte lineage
  • POU3F3 and POU3F2 (Brn1 and Brn2) are known to label postmitotic upper-layer cells, and are redundantly required for their production
  • important for hypothalamic development and function, and controls oxytocin expression in the hypothalamic neuroendocrine preoptic area
  • plays an important role in brain development
  • is involved in cognitive function as well as adult hippocampal neurogenesis, and homopolymeric amino acid repeats in this gene play a functional role
  • importance of POU3F2 and MITF expression in development of melanoma metastasis (PMI: 28883623)
  • POU3F2, serving as an upstream factor, controls specification and differentiation of ganglionic eminences
  • CELLULAR PROCESS cell life, proliferation/growth
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development , nervous system
    text
  • neuronal development
  • positive regulation of cell proliferation
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
  • binding prefenrentially to the recognition sequence consisting of two distinct half sites (GCAT and TAAT), separated by a non-conserved spacer region of 0 or 2 or 3 nucleotides
  • binding to the octamer sequence ATGCAAAT
  • RNA
    small molecule
    protein
  • class III POU factor Brn-4
  • PQBP1
  • POU3F2, POU3F3 influence multiple stages of neurogenesis by suppressing Notch effector HES5, and promoting the expression of proneural transcription factors EOMES and TBR1
  • in the astrocyte lineage, ZBTB20 directly represses the expression of POU3F2, which encodes a protein necessary for upper-layer neuron specification
  • POU3F2 binds to the NTF3 promoter during neuronal differentiation
  • act downstream of SIM1 and interacts with the leptin and melanocortin pathway
  • cell & other
    REGULATION
    repressed by PQBP1
    Phosphorylated by PKA
    ASSOCIATED DISORDERS
    corresponding disease(s) NDDOTSA
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • BRN2AA transgene in a Mitf heterozygous background and in a Pax3 mutant background enhanced the coat color phenotype