MYSM1
Chr 1ARMyb like, SWIRM and MPN domains 1
Also known as: 2A-DUB, 2ADUB, BMFS4
Encodes a metalloprotease with deubiquitinase activity that regulates hematopoietic stem cell function, blood cell production, and immune responses by removing ubiquitin chains from key signaling proteins and deubiquitinating histone H2A to control gene transcription. Mutations cause bone marrow failure syndrome 4, an autosomal recessive disorder affecting blood cell production. The gene is highly constrained against loss-of-function variants (LOEUF 0.408), reflecting its critical role in hematopoiesis.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
576 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 | 25 | 1 | 10 | 0 | 36 |
Likely Pathogenic | 7 | 0 | 2 | 0 | 9 |
VUS | 2 | 214 | 13 | 4 | 233 |
Likely Benign | 0 | 6 | 114 | 115 | 235 |
Benign | 0 | 7 | 21 | 4 | 32 |
Conflicting | — | 9 | |||
| Total | 34 | 228 | 160 | 123 | 554 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MYSM1 · 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