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FLASH GENE
Symbol BNC2 contributors: mct - updated : 12-06-2019
HGNC name basonuclin 2
HGNC id 30988
Corresponding disease
LUTO congenital lower urinary-tract obstruction
Location 9p22.2      Physical location : 16.409.501 - 16.870.786
Synonym symbol(s) BSN2, FLJ20043, FLJ34928, DKFZp686A01127
DNA
TYPE functioning gene
STRUCTURE 461.27 kb     7 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
text over two thousand transcripts are initiated from six promoters, are alternatively spliced at multiple positions, and are polyadenylated at four sites
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 12926 - 1099 - 2007 16942855
7 - 12656 - 861 - 2007 16942855
6 - 12706 - 1004 - 2007 16942855
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestine   highly Homo sapiens
Nervousbrain     Homo sapiens
 spinal cord     Homo sapiens
Reproductivefemale systemuterus    Homo sapiens
 male systemtestis    Homo sapiens
Skin/Tegumentskin   highly Homo sapiens
Urinarykidney   highly Homo sapiens
 urethra   highly Homo sapiensFetal
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/liningepidermis   Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Reproductivegerm cell Homo sapiens
Reproductivesperm cell Homo sapiens
Reproductivespermatogonia Homo sapiens
Skin/Tegumentkeratinocyte Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
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 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.
    CELLULAR PROCESS nucleotide, transcription
    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)
    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