BNC2

Chr 9AD

basonuclin zinc finger protein 2

Also known as: BSN2, LUTO, bn2

NCBI Gene: 54796 ENSG00000173068 UniProt: Q6ZN30 OMIM: 608669

BNC2 encodes a zinc finger transcription factor that regulates keratinocyte differentiation and plays an important role in early urinary tract development. Mutations cause congenital lower urinary tract obstruction with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 0.93, LOEUF 0.34), indicating that complete loss of function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associated with susceptibility to adolescent idiopathic scoliosis. [provided by RefSeq, Jul 2016]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Lower urinary tract obstruction, congenitalMIM #618612

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.34

LOEUF· LoF intol.

LOF

Mechanism· G2P