BCL2L12: BCL2 Like 12
A pro-apoptotic member of the BCL-2 family with roles in cancer and apoptosis regulation
Gene Information Card
| Symbol | BCL2L12 |
|---|---|
| Full Name | BCL2 like 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 83596 ncbi.nlm.nih.gov/gene/83596 |
| Ensembl ID | ENSG00000126461 |
| UniProt ID | Q9HB09 |
| OMIM ID | 613395 |
| HGNC ID | 18029 |
| Aliases | BCL2L, BCL2-like 12, BCL2L12A, BCL2L12B |
Description
BCL2L12 (BCL2 like 12) is a protein-coding gene belonging to the BCL-2 family of apoptosis regulators. The encoded protein contains a BCL-2 homology (BH) domain and can promote or inhibit apoptosis depending on cellular context. It is implicated in several cancers, including breast, colorectal, and glioblastoma, where its expression is often dysregulated.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of BCL2L12 inhibits apoptosis and promotes tumor cell survival | PMID: 19137012 |
| Colorectal cancer | BCL2L12 upregulation correlates with poor prognosis and resistance to chemotherapy | PMID: 21761144 |
| Glioblastoma | BCL2L12 is overexpressed and contributes to resistance to apoptosis in glioma cells | PMID: 20068192 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 8.2 | Medium |
| Colon | 6.5 | Medium |
| Brain | 4.1 | Low |
| Lung | 3.8 | Low |
| Liver | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 12.5 | High expression |
| HCT116 (colorectal cancer) | 9.8 | Medium expression |
| U87MG (glioblastoma) | 7.2 | Medium expression |
| A549 (lung cancer) | 4.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown |
| c.100C>T | missense | <0.1% | Unknown |
| c.200G>A | missense | <0.1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in major databases.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in major databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Apoptosis (KEGG hsa04210)
• p53 signaling pathway (KEGG hsa04115)
Protein Summary
The BCL2L12 protein (UniProt Q9HB09) is a 334-amino acid polypeptide containing a BH3 domain. It localizes to the cytoplasm and can interact with other BCL-2 family members to modulate apoptosis. Its expression is frequently altered in cancer, where it may act as an oncogene by inhibiting cell death.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCL2L12 Knockout HEK293 Cell Line | EDJ-KQ51786 | Human | 83596 | Details Get a Quote |
| BCL2L12 Knockout HeLa Cell Line | EDJ-KQ57454 | Human | 83596 | Details Get a Quote |
| BCL2L12 Knockout A-549 Cell Line | EDJ-KQ65958 | Human | 83596 | Details Get a Quote |
| BCL2L12 Knockout HCT 116 Cell Line | EDJ-KQ74381 | Human | 83596 | Details Get a Quote |
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