BCL2L2 (Bcl-2-like protein 2) variants and mutations

BCL2L2 (also known as Bcl-2-like protein 2) is a human protein-coding gene encoding a bcl-2-like protein 2 protein. It promotes cell survival by binding pro-apoptotic BCL-2-family proteins and limiting mitochondrial apoptosis. Abnormal expression can help malignant or stressed cells resist death, although its clinical role is less dominant than that of BCL2 or BCL-XL. This analysis covers 553 BCL2L2 variants and mutations. Of these, 92% have computational variant effect predictions. Disease context includes neurodegenerative disease, neoplasm, and myelofibrosis. Example BCL2L2 variants include A2V, A2A, and T3N.

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, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable BCL2L2 variants

Examples include A2V, A2A, T3N, T3P, T3T, P4Q, P4L, A5V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.