BCL2L11 (Bcl-2-like protein 11) variants and mutations

BCL2L11 (also known as Bcl-2-like protein 11) is a human protein-coding gene encoding a bcl-2-like protein 11 protein. Its BIM isoforms act as potent initiators of intrinsic apoptosis by neutralizing anti-apoptotic BCL-2-family proteins and activating BAX or BAK. Reduced BIM activity can promote treatment resistance, particularly in cancers dependent on survival signaling. This analysis covers 617 BCL2L11 variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes cancer, neurodegenerative disease, and prostate carcinoma. Example BCL2L11 variants include A2G, A2T, and A2S.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable BCL2L11 variants

Examples include A2G, A2T, A2S, A2E, A2V, K3E, K3N, K3R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.