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BNC2

Chr 9p22.3-p22.2

basonuclin zinc finger protein 2

Aliases:
BSN2, FLJ20043, bn2
MANE:
ENST00000380672.9

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • CAKUT

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Unexplained young onset end-stage renal disease - additional genes

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Pigmentary skin disorders

Disease associations (Open Targets)

  • lower urinary tract obstruction, congenital

    0.70
  • fetal lower urinary tract obstruction

    0.62
  • posterior urethral valve

    0.55
  • basal cell carcinoma

    0.52
  • skin neoplasm

    0.51
  • hair color

    0.51
  • Abnormality of the skeletal system

    0.51
  • actinic keratosis

    0.51
  • skin cancer

    0.50
  • squamous cell carcinoma

    0.48

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Zinc finger protein basonuclin-2

Probable transcription factor specific for skin keratinocytes. May play a role in the differentiation of spermatozoa and oocytes (PubMed:14988505). May also play an important role in early urinary-tract development (PubMed:31051115)

Curated MONDO disease pages that list BNC2 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.