Aliases for BCL2 Gene
External Ids for BCL2 Gene
Previous GeneCards Identifiers for BCL2 Gene
This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
GeneCards Summary for BCL2 Gene
BCL2 (BCL2 Apoptosis Regulator) is a Protein Coding gene. Diseases associated with BCL2 include High Grade B-Cell Lymphoma With Myc And/ Or Bcl2 And/Or Bcl6 Rearrangement and Follicular Lymphoma 1. Among its related pathways are Direct p53 effectors and Amyotrophic lateral sclerosis (ALS). Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and identical protein binding. An important paralog of this gene is BCL2L1.
UniProtKB/Swiss-Prot Summary for BCL2 Gene
Suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and neural cells. Regulates cell death by controlling the mitochondrial membrane permeability. Appears to function in a feedback loop system with caspases. Inhibits caspase activity either by preventing the release of cytochrome c from the mitochondria and/or by binding to the apoptosis-activating factor (APAF-1). May attenuate inflammation by impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (PubMed:17418785).
Bcl-2 family proteins contribute to programmed cell death or apoptosis. It is a large protein family and all members contain at least one of four Bcl-2 homology domains. Certain members (Bcl-2, Bcl-XL and Mcl-1) are antiapoptotic, whilst others (Bax, Bak, Bok) are proapoptotic.