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FLASH GENE
Symbol BNC2 contributors: mct - updated : 12-06-2019
HGNC name basonuclin 2
HGNC id 30988
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three paired zinc fingers, separate pairs of zinc fingers
  • a nuclear localization signal
  • a serine stripe
  • HOMOLOGY
    interspecies ortholog to drosophila Disco
    intraspecies paralog to BNC1
    Homologene
    FAMILY
  • basonuclin zinc finger family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text
  • confined to the nucleus
  • within the male germ cell lineage, BNC2 is restricted to prospermatogonia and undifferentiated spermatogonia
  • localization of BNC2 in nuclear speckles and having potential involvement in nuclear processing of mRNA
  • basic FUNCTION
  • having an important function, presumably as a regulatory protein of DNA transcription
  • may be having a function in nuclear processing of mRNA
  • may play an essential role for the multiplication of craniofacial mesenchymal cells during embryogenesis
  • is a major regulator of male germ stem cells, which is required for repression of meiosis and mitosis in prospermatogonia, and for meiosis progression during spermatogenesis
  • BNC2 plays an important role in early urinary-tract development across different species
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to drosophila Disco
    intraspecies paralog to BNC1
    Homologene
    FAMILY
    CATEGORY
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text
  • confined to the nucleus
  • within the male germ cell lineage, BNC2 is restricted to prospermatogonia and undifferentiated spermatogonia
  • localization of BNC2 in nuclear speckles and having potential involvement in nuclear processing of mRNA
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LUTO
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    increased BNC2 expression is implicated in the etiology of Adolescent idiopathic scoliosis (AIS)
    tumoral     --low  
    of BNC1 and BNC2 is associated with genetic or epigenetic regulation in hepatocellular carcinoma
    Susceptibility
  • to ovarian cancer
  • to adolescent idiopathic scoliosis (AIS)
  • variation of skin color
  • to facial pigmented spots during aging
  • Variant & Polymorphism SNP
  • rs3814113 significantly associated to ovarian cancer
  • AIS highly associated SNPs were all in intron 3 of BNC2
  • highly conserved region surrounding rs12350739 functions as an enhancer element regulating BNC2 transcription in human melanocytes, while the activity of this enhancer element depends on the allelic status of rs12350739
  • genetic variations in BNC2 contribute to the acquired amount of facial pigmented spots during aging, through pathways independent of the basal melanin production
  • Rs3814113 is the single-nucleotide polymorphism (SNP) showing the strongest association with high-grade serous ovarian carcinoma
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking basonuclin 2 die within 24 h of birth with a cleft palate and abnormalities of craniofacial bones and tongue
  • Bnc2(-/-) mice of both sexes displayed a high frequency of distal urethral defects; heterozygotes showed similar defects with reduced penetrance
  • depletion of Bnc2 causes pericardial effusion, hydrocephalus, glomerular cysts, and distal pronephric-outlet obstruction in Zebrafish