BMF
Bcl2 modifying factor
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]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs555721433 | 15:40,384,005 | C/T | — | uncertain significance |
| rs11637595 | 15:40,387,728 | C/T | regulatory region variant | — |
| rs11634257 | 15:40,388,492 | T/A | regulatory region variant | — |
| rs764497660 | 15:40,396,526 | C/A | — | uncertain significance |
| rs367707665 | 15:40,396,536 | C/T | — | uncertain significance |
| rs539846 | 15:40,397,936 | G/C | — | — |
| rs756016648 | 15:40,398,004 | A/G | — | uncertain significance |
| rs575806674 | 15:40,398,007 | C/T | — | uncertain significance |
| rs2504862596 | 15:40,398,059 | A/T | — | uncertain significance |
| rs750255559 | 15:40,398,155 | T/C | — | uncertain significance |
| rs773621715 | 15:40,398,217 | G/A | — | uncertain significance |
| rs148420422 | 15:40,398,238 | G/A | — | uncertain significance |
| rs370152086 | 15:40,398,284 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.