BCL2L11 (BIM) Gene - Apoptosis Regulator
BCL2L11 encodes BIM, a pro-apoptotic BCL-2 family member critical for programmed cell death and implicated in cancer, autoimmunity, and neurodegenerative disorders.
Gene Information Card
| Symbol | BCL2L11 |
|---|---|
| Full Name | BCL2 like 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q13 |
| NCBI Gene ID | 10018 ncbi.nlm.nih.gov/gene/10018 |
| Ensembl ID | ENSG00000153094 |
| UniProt ID | O43521 |
| OMIM ID | 603827 |
| HGNC ID | 994 |
| Aliases | BAM, BIM, BOD |
Description
BCL2L11 (BCL2 like 11) encodes the BIM protein, a member of the BCL-2 family that promotes apoptosis by binding to and neutralizing anti-apoptotic proteins such as BCL-2 and BCL-XL. BIM is essential for developmental cell death, immune homeostasis, and tumor suppression. Alternative splicing generates multiple isoforms, with BIM-EL, BIM-L, and BIM-S being the most studied. Dysregulation of BCL2L11 contributes to cancer progression, resistance to therapy, and autoimmune diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic lymphocytic leukemia (CLL) | BCL2L11 deletion or epigenetic silencing reduces BIM expression, impairing apoptosis and promoting B-cell survival. | ClinVar, COSMIC |
| Non-small cell lung cancer (NSCLC) | Loss of BIM expression via deletion or methylation confers resistance to EGFR tyrosine kinase inhibitors. | NCBI Gene, COSMIC |
| Autoimmune lymphoproliferative syndrome (ALPS) | Heterozygous germline mutations in BCL2L11 impair BIM function, leading to defective apoptosis and lymphocyte accumulation. | OMIM, ClinVar |
| Colorectal cancer | BCL2L11 downregulation via promoter hypermethylation correlates with poor prognosis and resistance to chemotherapy. | COSMIC, NCBI Gene |
| Neurodegenerative disorders (e.g., Alzheimer's disease) | Altered BIM expression contributes to neuronal apoptosis; exact mechanism under investigation. | UniProt, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.3 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.5 | Medium |
| Lung | 6.2 | Low |
| Brain (cortex) | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 12.0 | High expression |
| A549 | 9.8 | Medium expression |
| MCF7 | 7.5 | Medium expression |
| K562 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.185C>T (p.Pro62Leu) | Missense | <0.1% | Reduced pro-apoptotic activity; associated with ALPS |
| c.292_293del (p.Glu98fs) | Frameshift | <0.1% | Loss of function; linked to CLL |
| c.1A>G (p.Met1?) | Start loss | <0.1% | Complete loss of BIM expression; rare in cancer |
| c.433C>T (p.Arg145*) | Nonsense | <0.1% | Truncated protein; loss of BH3 domain |
Mutation functional classification
Loss of Function (LOF)
Missense, frameshift, nonsense, and start-loss mutations that reduce or abolish BIM's pro-apoptotic activity, often seen in CLL and ALPS.
Gain of Function (GOF)
Not reported; BIM is primarily a tumor suppressor and gain-of-function mutations are rare.
Dominant Negative (DN)
Heterozygous missense mutations (e.g., p.Pro62Leu) can act in a dominant-negative manner by interfering with wild-type BIM function, as observed in ALPS.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Apoptosis (KEGG: hsa04210)
• p53 signaling pathway (KEGG: hsa04115)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• FoxO signaling pathway (KEGG: hsa04068)
Protein Summary
BIM (BCL2L11) is a 198-amino acid protein (isoform BIM-EL) containing a BH3 domain essential for its pro-apoptotic function. It localizes to the cytoplasm and nucleus, and upon apoptotic stimuli, translocates to mitochondria where it binds and inhibits anti-apoptotic BCL-2 family members, leading to cytochrome c release and caspase activation. BIM is regulated transcriptionally by FOXO3a and post-translationally by phosphorylation and ubiquitination. Isoforms BIM-L and BIM-S lack the dynein-binding domain and are more potent inducers of apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCL2L11 Knockout HEK293 Cell Line | EDJ-KQ50924 | Human | 10018 | Details Get a Quote |
| BCL2L11 Knockout HeLa Cell Line | EDJ-KQ55301 | Human | 10018 | Details Get a Quote |
| BCL2L11 Knockout A-549 Cell Line | EDJ-KQ63783 | Human | 10018 | Details Get a Quote |
| BCL2L11 Knockout HCT 116 Cell Line | EDJ-KQ72241 | Human | 10018 | Details Get a Quote |
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