SUV39H2
Chr 10SUV39H2 histone lysine methyltransferase
Also known as: KMT1B
SUV39H2 encodes a histone methyltransferase that catalyzes trimethylation of histone H3 lysine 9 (H3K9me3), establishing constitutive heterochromatin at pericentric and telomeric regions and mediating epigenetic transcriptional repression. Mutations cause autosomal dominant intellectual disability with developmental delay and behavioral abnormalities. The gene is highly constrained against loss-of-function variants (pLI 0.93, LOEUF 0.36), indicating intolerance to protein disruption.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
62 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 18 | 0 | 18 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 24 | 2 | 0 | 26 |
Likely Benign | 0 | 1 | 3 | 1 | 5 |
Benign | 0 | 0 | 4 | 0 | 4 |
| Total | 0 | 25 | 27 | 1 | 53 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SUV39H2 · 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