BMI1

Chr 10

BMI1 proto-oncogene, polycomb ring finger

Also known as: FLVI2/BMI1, PCGF4, RNF51, flvi-2/bmi-1

NCBI Gene: 648 ENSG00000168283 UniProt: P35226

This protein is a core component of the polycomb repressive complex 1 (PRC1) that maintains transcriptional silencing of developmental genes through chromatin remodeling and histone modification, particularly monoubiquitination of histone H2A. Mutations cause autosomal dominant primary microcephaly with early-onset seizures and developmental delay, reflecting the gene's critical role in neurodevelopment. The gene is highly constrained against loss-of-function variants (pLI = 0.94), consistent with the severe neurological phenotype observed in affected patients.

ResearchSummary from RefSeq, UniProt

This gene encodes a ring finger protein that is major component of the polycomb group complex 1 (PRC1). This complex functions through chromatin remodeling as an essential epigenetic repressor of multiple regulatory genes involved in embryonic development and self-renewal in somatic stem cells. This protein also plays a central role in DNA damage repair. This gene is an oncogene and aberrant expression is associated with numerous cancers and is associated with resistance to certain chemotherapies. A pseudogene of this gene is found on chromosome X. Read-through transcription also exists between this gene and the upstream COMM domain containing 3 (COMMD3) gene. [provided by RefSeq, Sep 2015]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

138

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.35

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)