BMF Bcl2 modifying factor
Gene ID: 90427, updated on 2-Nov-2024Gene type: protein coding
- See all available tests in GTR for this gene
- Go to complete Gene record for BMF
- Go to Variation Viewer for BMF variants
Summary
The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a single BCL2 homology domain 3 (BH3), and has been shown to bind BCL2 proteins and function as an apoptotic activator. This protein is found to be sequestered to myosin V motors by its association with dynein light chain 2, which may be important for sensing intracellular damage and triggering apoptosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. GeneReviews: Not available | |
| Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma. GeneReviews: Not available | |
| Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms. GeneReviews: Not available |
Genomic context
- Location:
- 15q15.1
- Sequence:
- Chromosome: 15; NC_000015.10 (40087890..40108879, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BMF variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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