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FLASH GENE
Symbol BNC2 contributors: mct - updated : 12-06-2019
HGNC name basonuclin 2
HGNC id 30988
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