MYSM1 Myb like, SWIRM and MPN domains 1
Gene ID: 114803, updated on 2-Nov-2024Gene type: protein coding
Also known as: 2ADUB; BMFS4; 2A-DUB
- See all available tests in GTR for this gene
- Go to complete Gene record for MYSM1
- Go to Variation Viewer for MYSM1 variants
Summary
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, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Bone marrow failure syndrome 4 | See labs |
| Genome-wide association study of diabetic retinopathy in a Taiwanese population. GeneReviews: Not available |
Genomic context
- Location:
- 1p32.1
- Sequence:
- Chromosome: 1; NC_000001.11 (58654743..58700062, complement)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MYSM1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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