SUMO3
Chr 21small ubiquitin like modifier 3
Also known as: SMT3A, SMT3H1, SUMO-3
The protein functions as a small ubiquitin-related modifier that is covalently attached to target proteins to regulate cellular processes including nuclear transport, DNA replication and repair, mitosis, and transcriptional regulation. Mutations in SUMO3 cause neurodevelopmental disorder with microcephaly, seizures, and brain atrophy with autosomal recessive inheritance. The gene shows moderate tolerance to loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
115 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 84 |
Likely Pathogenic | — | — | — | — | 4 |
VUS | — | — | — | — | 21 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 2 |
Conflicting | — | 1 | |||
| Total | — | 113 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SUMO3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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