BCL2A1
BCL2 related protein A1
Summary
This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1202772541 | 15:80,253,428 | A/G | — | uncertain significance |
| rs112191286 | 15:80,253,524 | A/C | — | benign |
| rs7180804 | 15:80,259,074 | G/A | regulatory region variant | — |
| rs8025803 | 15:80,260,273 | A/T | intron variant | — |
| rs8025805 | 15:80,260,274 | A/C | — | — |
| rs76648483 | 15:80,260,275 | A/T | — | — |
| rs67760360 | 15:80,260,872 | G/A | regulatory region variant | — |
| rs150435550 | 15:80,263,107 | A/C | — | uncertain significance |
| rs143571009 | 15:80,263,133 | G/A | — | uncertain significance |
| rs372157153 | 15:80,263,134 | G/A | — | uncertain significance |
| rs142667711 | 15:80,263,167 | G/C | — | uncertain significance |
| rs2505316835 | 15:80,263,248 | T/C | — | uncertain significance |
| rs2505316988 | 15:80,263,331 | A/G | — | uncertain significance |
| rs34505045 | 15:80,263,363 | C/T | — | benign |
| rs760991096 | 15:80,263,364 | G/A | — | uncertain significance |
| rs2505317099 | 15:80,263,392 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.