BCL2L13 (BCL2 Like 13)
Apoptosis regulator and mitochondrial dynamics modulator
Gene Information Card
| Symbol | BCL2L13 |
|---|---|
| Full Name | BCL2 Like 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 23786 ncbi.nlm.nih.gov/gene/23786 |
| Ensembl ID | ENSG00000100290 |
| UniProt ID | Q9BXK5 |
| OMIM ID | 606126 |
| HGNC ID | 1000 |
| Aliases | BCL-Rambo, MIL1, BCL2L13 |
Description
BCL2L13 (BCL2 Like 13) is a protein-coding gene that encodes a member of the BCL-2 family of apoptosis regulators. The protein contains a BCL-2 homology domain 3 (BH3) and a C-terminal transmembrane domain, localizing to mitochondria. It promotes apoptosis by inducing mitochondrial outer membrane permeabilization and also functions as a mitochondrial fission factor (MIEF1/MiD51) through interaction with Drp1. BCL2L13 is involved in programmed cell death, mitochondrial dynamics, and has been implicated in cancer, neurodegenerative diseases, and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of apoptosis via BCL2L13 overexpression or mutation; altered mitochondrial fission | COSMIC, ClinVar, literature |
| Neurodegenerative disorders | Impaired mitochondrial dynamics and apoptosis in neurons | Literature, UniProt |
| Developmental delay | Copy number variants at 22q11.21 region | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Spleen | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 8.5 | Moderate expression |
| K562 | 6.0 | Low expression |
| MCF7 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Nonsense | <0.01% | Loss of function |
| c.200_201del | Frameshift | <0.01% | Loss of function |
| c.300G>A | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations predicted to truncate the protein, impairing apoptosis and mitochondrial fission.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance pro-apoptotic activity.
Dominant Negative (DN)
Not reported for BCL2L13.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Apoptosis (KEGG hsa04210)
• Mitochondrial dynamics (Reactome R-HSA-5205685)
• Programmed cell death (WikiPathways WP254)
Protein Summary
BCL2L13 (BCL-Rambo) is a 417-amino acid protein with a BH3 domain and a C-terminal transmembrane anchor. It localizes to the mitochondrial outer membrane and promotes apoptosis by facilitating cytochrome c release. Additionally, it acts as a mitochondrial fission factor (MIEF1/MiD51) by recruiting Drp1 to mitochondria, independent of its pro-apoptotic function. The protein is widely expressed, with highest levels in testis and brain. Post-translational modifications include phosphorylation, which may regulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCL2L13 Knockout HEK293 Cell Line | EDJ-KQ1431 | Human | 23786 | Details Get a Quote |
| BCL2L13 Knockout A-549 Cell Line | EDJ-KQ22281 | Human | 23786 | Details Get a Quote |
| BCL2L13 Knockout HCT 116 Cell Line | EDJ-KQ22283 | Human | 23786 | Details Get a Quote |
| BCL2L13 Knockout HeLa Cell Line | EDJ-KQ22284 | Human | 23786 | Details Get a Quote |
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