BAD
BCL2 associated agonist of cell death
Summary
The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL (B-cell lymphoma-extra large) and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq, Dec 2019]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs750374497 | 11:64,037,709 | C/A | — | uncertain significance |
| rs201046961 | 11:64,037,710 | C/G | — | uncertain significance |
| rs370905266 | 11:64,037,733 | T/C | — | uncertain significance |
| rs2495351507 | 11:64,037,757 | C/T | — | uncertain significance |
| rs145689917 | 11:64,039,217 | G/C | — | likely benign |
| rs368660221 | 11:64,039,219 | C/T | — | uncertain significance |
| rs1189823366 | 11:64,039,227 | C/A | — | uncertain significance |
| rs1294670707 | 11:64,039,270 | C/T | — | uncertain significance |
| rs11231742 | 11:64,047,556 | A/G | upstream gene variant | — |
| rs1325649112 | 11:64,047,948 | C/T | — | — |
| rs477895 | 11:64,048,912 | C/T | upstream gene variant | — |
| rs766061149 | 11:64,051,695 | C/T | — | uncertain significance |
| rs1340097547 | 11:64,051,744 | C/T | — | uncertain significance |
| rs2495502880 | 11:64,051,747 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.