MYSM1

Chr 1

Myb like, SWIRM and MPN domains 1

Also known as: 2A-DUB, 2ADUB, BMFS4

NCBI Gene: 114803 ENSG00000162601 UniProt: Q5VVJ2

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.

ResearchSummary from RefSeq, OMIM, UniProt

Enables deubiquitinase activity; histone binding activity; and transcription coactivator activity. Involved in chromatin remodeling; positive regulation of transcription by RNA polymerase II; and regulation of hemopoiesis. Located in nucleolus and nucleoplasm. Part of protein-containing complex. Implicated in diabetic retinopathy. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBone marrow failure syndrome 4

Clinical highlights

Gene-disease validity (ClinGen)

bone marrow failure syndrome 4 · ARDefinitivesufficient evidence for diagnostic panels

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)

—

P/LP submissions

—

P/LP missense

0.41

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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