Preferred Label : BCL2 wt Allele;
NCIt synonyms : Protein Phosphatase 1, Regulatory Subunit 50 Gene; BCL-2 Gene; PPP1R50; B-cell CLL-Lymphoma 2 Gene; Leukemia/Lymphoma, B-Cell, 2 Gene; Oncogene B-Cell Leukemia 2 Gene; ced9 Homolog Gene; BCL2, Apoptosis Regulator wt Allele;
NCIt definition : Human BCL2 wild-type allele is located in the vicinity of 18q21.3 and is approximately195
kb in length. This mitochondrial allele, which encodes apoptosis regulator Bcl-2 protein,
is involved in apoptosis and sub-cellular signal transduction.;
NCIt note : The BCL-2 gene encodes two isoforms from alternative splicing of the mitochondrial
membrane protein BCL-2, which exhibits anti-apoptotic activity promoted by growth
factor-stimulated phosphorylation by PKC. Cleavage of BCL-2 by caspases during apoptosis
yields a pro-apoptotic product that stimulates further caspase activity, due to release
of mitochondrial cytochrome C into the cytosol. Gene transcription is up regulated
by IL2. BCL-2 consists of two exons separated by an intron. These mRNAs encode alpha
and beta isoforms, identical except for the carboxyl terminus. Overexpression of BCL-2
from a t(14;18) translocation with the Ig gene region promotes B-cell lymphomas, due
to interference with apoptosis.;
GenBank Accession Number : M14745; NM_000633;
Origin ID : C49350;
UMLS CUI : C1704467;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- False automatic mappings
- OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_has_abnormality
- gene_has_physical_location
- gene_in_chromosomal_location
- gene_involved_in_pathogenesis_of_disease
- gene_is_element_in_pathway
- gene_plays_role_in_process
