PCGF3

Chr 4

polycomb group ring finger 3

ENSG00000185619 UniProt: Q3KNV8 OMIM: 617543

PCGF3 encodes a component of Polycomb repressive complex 1 (PRC1) that maintains transcriptional silencing of developmental genes through chromatin remodeling and histone H2A monoubiquitination, including regulation of Hox genes and X-chromosome inactivation. The gene is highly constrained against loss-of-function variants, but specific disease associations and inheritance patterns have not been established. Mutations in related Polycomb genes typically cause developmental disorders affecting multiple organ systems.

OMIM ResearchSummary from RefSeq, UniProt

Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332). Plays a redundant role with PCGF5 as part of a PRC1-like complex that mediates monoubiquitination of histone H2A 'Lys-119' on the X chromosome and is required for normal silencing of one copy of the X chromosome in XX females (By similarity)

OMIM 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

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.34

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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