BCL2L2 (BCL2 Like 2)
Apoptosis regulator BCL-W, a pro-survival BCL-2 family member
Gene Information Card
| Symbol | BCL2L2 |
|---|---|
| Full Name | BCL2 Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 599 ncbi.nlm.nih.gov/gene/599 |
| Ensembl ID | ENSG00000129473 |
| UniProt ID | Q92843 |
| OMIM ID | 601931 |
| HGNC ID | 993 |
| Aliases | BCL-W, BCLW, PPP1R51 |
Description
BCL2L2 encodes BCL-W, a pro-survival member of the BCL-2 family. The protein inhibits apoptosis by binding and sequestering pro-apoptotic BCL-2 family members such as BAX and BAK. BCL-W is essential for spermatogenesis and plays roles in cell survival in various tissues. Overexpression is associated with chemoresistance in several cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-small cell lung cancer | Overexpression of BCL-W inhibits apoptosis, promoting tumor survival | PMID: 19029980 |
| Colorectal cancer | BCL-W upregulation correlates with poor prognosis and resistance to chemotherapy | PMID: 21532982 |
| Chronic lymphocytic leukemia | BCL-W is overexpressed and contributes to apoptosis evasion | PMID: 16282344 |
| Spermatogenic failure | BCL2L2 knockout mice show impaired spermatogenesis; human variants may contribute to infertility | OMIM: 601931 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Brain | 8.2 | Medium |
| Colon | 6.1 | Medium |
| Lung | 5.3 | Medium |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 7.8 | Cervical cancer cell line |
| A549 | 6.5 | Lung cancer cell line |
| HCT116 | 5.9 | Colorectal cancer cell line |
| MCF7 | 4.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown significance |
| c.200C>T | Nonsense | <0.1% | Predicted loss of function |
| p.Arg94Cys | Missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.200C>T) are predicted to cause premature truncation and loss of anti-apoptotic function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process (GO:0006915) | • negative regulation of apoptotic process (GO:0043066) |
| • protein binding (GO:0005515) | • mitochondrion (GO:0005739) |
| • mitochondrial membrane (GO:0031966) |
Pathways
• Apoptosis (KEGG: hsa04210)
• Intrinsic Pathway for Apoptosis (Reactome: R-HSA-109606)
Protein Summary
BCL-W (UniProt Q92843) is a 193-amino acid protein with a BH1, BH2, BH3, and BH4 domain. It localizes to the mitochondrial outer membrane and inhibits apoptosis by heterodimerizing with pro-apoptotic proteins like BAX and BAK. BCL-W is critical for survival of spermatogenic cells and is implicated in cancer cell resistance to therapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCL2L2 Knockout HEK293 Cell Line | EDJ-KQ50151 | Human | 599 | Details Get a Quote |
| BCL2L2-PABPN1 Knockout HEK293 Cell Line | EDJ-KQ52491 | Human | 100529063 | Details Get a Quote |
| BCL2L2 Knockout HeLa Cell Line | EDJ-KQ52711 | Human | 599 | Details Get a Quote |
| BCL2L2-PABPN1 Knockout HeLa Cell Line | EDJ-KQ60954 | Human | 100529063 | Details Get a Quote |
| BCL2L2 Knockout A-549 Cell Line | EDJ-KQ61182 | Human | 599 | Details Get a Quote |
| BCL2L2-PABPN1 Knockout A-549 Cell Line | EDJ-KQ69429 | Human | 100529063 | Details Get a Quote |
| BCL2L2 Knockout HCT 116 Cell Line | EDJ-KQ69673 | Human | 599 | Details Get a Quote |
| BCL2L2-PABPN1 Knockout HCT 116 Cell Line | EDJ-KQ77780 | Human | 100529063 | Details Get a Quote |
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