BCL2L14: BCL2 Like 14 (Apoptosis Facilitator)
A pro-apoptotic member of the BCL-2 family involved in programmed cell death and cancer biology.
Gene Information Card
| Symbol | BCL2L14 |
|---|---|
| Full Name | BCL2 Like 14 (Apoptosis Facilitator) |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.2 |
| NCBI Gene ID | 79370 ncbi.nlm.nih.gov/gene/79370 |
| Ensembl ID | ENSG00000111224 |
| UniProt ID | Q9BZR8 |
| OMIM ID | 606126 |
| HGNC ID | 1000 |
| Aliases | BCL-G, BCL2L14, BCL2-like 14 |
Description
BCL2L14 (BCL2 Like 14) is a protein-coding gene that belongs to the BCL-2 family. It encodes a pro-apoptotic protein that promotes programmed cell death by binding to and inhibiting anti-apoptotic BCL-2 family members. The gene is located on chromosome 12p13.2 and is expressed in various tissues, with highest levels in testis and placenta. Alternative splicing generates multiple isoforms, including a long form (BCL-GL) and a short form (BCL-GS), which differ in their pro-apoptotic potency and subcellular localization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression of BCL2L14 may disrupt apoptosis regulation, contributing to tumorigenesis and therapy resistance. | PubMed, COSMIC |
| Male infertility | Reduced expression in testis may impair germ cell apoptosis, leading to abnormal spermatogenesis. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Placenta | 8.2 | Medium |
| Lymph node | 4.1 | Low |
| Spleen | 3.8 | Low |
| Bone marrow | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.0 | Embryonic kidney, moderate expression |
| HeLa | 3.2 | Cervical cancer, low expression |
| MCF7 | 2.1 | Breast cancer, low expression |
| K562 | 1.5 | Leukemia, very 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 functional effect |
| c.100C>T | nonsense | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of pro-apoptotic function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0006915 - apoptotic process | • GO:0043065 - positive regulation of apoptotic process |
| • GO:0005515 - protein binding | • GO:0042802 - identical protein binding |
| • GO:0005737 - cytoplasm | • GO:0005634 - nucleus |
Pathways
• Apoptosis (KEGG hsa04210)
• p53 signaling pathway (KEGG hsa04115)
Protein Summary
The BCL2L14 protein (UniProt Q9BZR8) is a pro-apoptotic member of the BCL-2 family. It contains a BCL-2 homology domain 3 (BH3) and a C-terminal transmembrane domain. The long isoform (BCL-GL) localizes to the cytoplasm and nucleus, while the short isoform (BCL-GS) is predominantly nuclear. Both isoforms promote apoptosis by heterodimerizing with anti-apoptotic proteins such as BCL-2 and BCL-XL, thereby neutralizing their survival function. BCL2L14 is also implicated in p53-mediated apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCL2L14 Knockout HEK293 Cell Line | EDJ-KQ12525 | Human | 79370 | Details Get a Quote |
| BCL2L14 Knockout HeLa Cell Line | EDJ-KQ57171 | Human | 79370 | Details Get a Quote |
| BCL2L14 Knockout A-549 Cell Line | EDJ-KQ65685 | Human | 79370 | Details Get a Quote |
| BCL2L14 Knockout HCT 116 Cell Line | EDJ-KQ74104 | Human | 79370 | Details Get a Quote |
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