BCL2L11
BCL2 like 11
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 protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2013]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs56952027 | 2:111,877,104 | C/T | downstream gene variant | — |
| rs73954925 | 2:111,877,174 | C/G | downstream gene variant | — |
| rs73954926 | 2:111,877,175 | T/G | downstream gene variant | — |
| rs60286362 | 2:111,877,493 | G/C | regulatory region variant | — |
| rs111736126 | 2:111,877,744 | C/G | regulatory region variant | — |
| rs116907128 | 2:111,878,699 | C/A | regulatory region variant | — |
| rs7602904 | 2:111,880,600 | C/G | — | — |
| rs112446582 | 2:111,881,361 | C/T | — | benign |
| rs1041372390 | 2:111,881,362 | C/G | — | uncertain significance |
| rs2468256670 | 2:111,881,407 | A/G | — | uncertain significance |
| rs2468257545 | 2:111,881,425 | T/C | — | uncertain significance |
| rs776156195 | 2:111,881,449 | A/G | — | uncertain significance |
| rs199602272 | 2:111,881,462 | A/G | — | uncertain significance |
| rs772949984 | 2:111,881,470 | G/C | — | uncertain significance |
| rs142060590 | 2:111,881,531 | C/G | — | uncertain significance |
| rs866570504 | 2:111,881,615 | C/T | — | uncertain significance |
| rs113135335 | 2:111,887,754 | T/G | intron variant | — |
| rs72836348 | 2:111,888,043 | G/A | intron variant | — |
| rs73954943 | 2:111,890,432 | G/T | — | — |
| rs6746608 | 2:111,892,984 | A/G | regulatory region variant | — |
| rs72836352 | 2:111,894,874 | C/T | intron variant | — |
| rs12613243 | 2:111,897,506 | T/C | regulatory region variant | — |
| rs113050728 | 2:111,898,984 | T/G | — | — |
| rs75543804 | 2:111,900,904 | G/A | — | — |
| rs3761704 | 2:111,903,698 | A/G | intron variant | — |
| rs11674517 | 2:111,903,832 | C/G | — | — |
| rs4848397 | 2:111,904,370 | A/G | intron variant | — |
| rs201059790 | 2:111,904,967 | A/G | — | — |
| rs2077065300 | 2:111,907,647 | G/A | — | uncertain significance |
| rs724710 | 2:111,907,691 | T/A | synonymous variant | — |
| rs142641143 | 2:111,907,706 | C/A | — | uncertain significance |
| rs9308731 | 2:111,908,262 | G/A | intron variant | — |
| rs144569746 | 2:111,908,567 | C/T | intron variant | — |
| rs3789068 | 2:111,909,247 | A/G | intron variant | — |
| rs3789067 | 2:111,910,083 | C/T | intron variant | — |
| rs3789065 | 2:111,915,022 | C/G | regulatory region variant | — |
| rs72837816 | 2:111,916,868 | A/C | intron variant | — |
| rs10189015 | 2:111,918,472 | G/A | regulatory region variant | — |
| rs76245002 | 2:111,918,994 | A/G | — | benign |
| rs3789059 | 2:111,921,152 | G/A | intron variant | — |
| rs142125092 | 2:111,921,712 | A/G | — | likely benign |
| rs150291943 | 2:111,921,774 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.