BCL2L11

Chr 2

BCL2 like 11

Also known as: BAM, BIM, BOD

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]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
52
Pubs (1 yr)
P/LP submissions
P/LP missense
0.42
LOEUF
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.42LOEUF
pLI 0.889
Z-score 2.47
OE 0.00 (0.000.42)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.12Z-score
OE missense 0.97 (0.831.13)
115 obs / 118.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.000.42)
00.351.4
Missense OE?0.97 (0.831.13)
00.61.4
Synonymous OE?1.17
01.21.6
LoF obs/exp: 0 / 7.1Missense obs/exp: 115 / 118.7Syn Z: -0.90

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

BCL2L11 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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