SUZ12
Chr 17ADSUZ12 polycomb repressive complex 2 subunit
Also known as: CHET9, IMMAS, JJAZ1
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SUZ12 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools