BCL2L1
BCL2 like 1
Summary
The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Alternative splicing results in multiple transcript variants encoding two different isoforms. The longer isoform acts as an apoptotic inhibitor and the shorter isoform acts as an apoptotic activator. [provided by RefSeq, Dec 2015]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs76150822 | 20:30,249,780 | T/G | — | uncertain significance |
| rs2122387594 | 20:30,253,780 | A/G | — | uncertain significance |
| rs768665664 | 20:30,253,828 | C/T | — | uncertain significance |
| rs930721821 | 20:30,253,846 | C/T | — | uncertain significance |
| rs10439607 | 20:30,258,541 | G/A | regulatory region variant | — |
| rs6088962 | 20:30,268,184 | C/T | regulatory region variant | — |
| rs6088998 | 20:30,290,192 | T/C | intron variant | — |
| rs547208086 | 20:30,290,380 | G/A | — | — |
| rs568401117 | 20:30,290,403 | G/A | — | — |
| rs149534433 | 20:30,293,438 | G/A | intron variant | — |
| rs6058431 | 20:30,297,133 | C/A | — | — |
| rs1484994 | 20:30,305,975 | A/G | downstream gene variant | — |
| rs778992647 | 20:30,309,464 | G/A | — | likely benign |
| rs148962546 | 20:30,309,677 | G/A | — | likely benign |
| rs2122876893 | 20:30,309,780 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.