SUZ12

Chr 17

SUZ12 polycomb repressive complex 2 subunit

Also known as: CHET9, IMMAS, JJAZ1

NCBI Gene: 23512 ENSG00000178691 UniProt: Q15022

The SUZ12 protein is a component of the PRC2 complex that methylates histones H3K9 and H3K27, leading to transcriptional repression of target genes including HOX genes and cell cycle regulators. Mutations cause Imagawa-Matsumoto syndrome with autosomal dominant inheritance. This gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.13), indicating strong selective pressure against damaging mutations.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion of this gene and JAZF1. The protein encoded by this gene contains a zinc finger domain in the C terminus of the coding region. [provided by RefSeq, Jul 2009]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImagawa-Matsumoto syndrome

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)

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P/LP submissions

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P/LP missense

0.13

LOEUF· LoF intol.

LOF

Mechanism· G2P

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GeneReview available — SUZ12