BCL2

BCL2 apoptosis regulator

3 disorders 2 no genetic record 1 untyped 18q21.33 gene with protein product

HGNC:990 Monarch NCBI Gene 596 ENSG00000171791 UniProt P10415 OMIM 151430

Aliases: Bcl-2, PPP1R50.

Normal function · from ai-gene-review (P10415, commit 79fe13b38970) · AI-generated, not KB evidence

BCL2 is a membrane-associated regulator of cell survival. Its BH3-binding groove recognizes proapoptotic ligands and BAX, restraining mitochondrial outer membrane permeabilization, cytochrome-c release and downstream caspase activation. BCL2 occurs at mitochondrial, endoplasmic-reticulum and nuclear-envelope membranes, with additional context-dependent pools. At the endoplasmic reticulum it inhibits IP3-receptor calcium release and binds BECN1 to limit autophagy; mitochondrial BCL2 can also inhibit AMBRA1-dependent autophagy. Cleavage or binding of Nur77 can expose a proapoptotic BCL2 state. Purified BCL2 has channel-forming capacity in reconstituted membranes, while its physiological use remains unresolved.

BCL2 recognizes BH3-containing ligands and restrains BAX-dependent mitochondrial permeabilization, maintaining the mitochondrial barrier to cytochrome-c release and caspase activation.

molecular function: BH3 domain binding · directly involved in: negative regulation of apoptotic process; negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway · locations: mitochondrial outer membrane

BCL2 inhibits membrane-permeabilizing activity of BAX at mitochondria and IP3-receptor channel opening at the endoplasmic reticulum, linking calcium regulation to cell survival.

molecular function: channel inhibitor activity · directly involved in: negative regulation of apoptotic process · locations: mitochondrial outer membrane; endoplasmic reticulum membrane

BCL2 binding to the BECN1 BH3 region inhibits autophagy; interaction with AMBRA1 supplies an additional mitochondrial route for restraining autophagosome formation.

molecular function: BH3 domain binding · directly involved in: negative regulation of autophagy · locations: endoplasmic reticulum membrane; mitochondrial outer membrane

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Follicular Lymphoma	untyped Defining Genetic Lesion
Blastic Plasmacytoid Dendritic Cell Neoplasm	no genetic record	mechanism: BCL2-Dependent Survival of Malignant pDCs
Primary_Tonsillar_Lymphoma	no genetic record	mechanism: Double/Triple-hit High-grade B-cell Lymphoma; Malignant B-cell Proliferation (Germinal Center Type)

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.