BCLAF3: A Novel BCL2-Associated Transcription Factor with Emerging Roles in Apoptosis and Cancer
Comprehensive genomic, expression, and mutation analysis of BCLAF3 (BCL2-associated transcription factor 3), a recently identified member of the BCLAF family, with implications in tumor suppression and transcriptional regulation.
Gene Information Card
| Symbol | BCLAF3 |
|---|---|
| Full Name | BCL2-associated transcription factor 3 |
| Gene Type | protein-coding |
| Chromosomal Location | Chr 5q33.3 (GRCh38) |
| NCBI Gene ID | 100130776 ncbi.nlm.nih.gov/gene/100130776 |
| Ensembl ID | ENSG00000255330 |
| UniProt ID | A0A0A0MRZ8 |
| OMIM ID | Not available |
| HGNC ID | HGNC:52323 |
| Aliases | C5orf30, bA203J24.7 |
Description
BCLAF3 (BCL2-associated transcription factor 3) is a protein-coding gene located on chromosome 5q33.3. It is a member of the BCLAF family, which includes BCLAF1, a known regulator of apoptosis and transcription. BCLAF3 is predicted to encode a protein with a BCL2-associated athanogene (BAG) domain and a MYC-binding domain, suggesting roles in protein-protein interactions and transcriptional regulation. Although its function is not fully characterized, recent studies indicate that BCLAF3 may act as a tumor suppressor, particularly in lung cancer, where its expression is frequently downregulated. The gene is conserved across species, and its protein is localized to the nucleus. BCLAF3 is also known as C5orf30, a name that has been used in earlier literature. Further research is needed to fully elucidate its molecular mechanisms and clinical significance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer | BCLAF3 expression is significantly reduced in lung cancer tissues and cell lines; overexpression inhibits cell proliferation and induces apoptosis, suggesting a tumor suppressor role. | PMID: 31209336 (via NCBI Gene, inferred from functional studies) |
| Breast cancer | BCLAF3 is listed as a potential tumor suppressor in breast cancer based on genomic studies, but detailed mechanism is not yet established. | COSMIC (cancer.sanger.ac.uk) – gene analysis shows mutations in breast cancer samples |
| Colorectal cancer | Mutations in BCLAF3 have been observed in colorectal cancer samples, but functional impact is unknown. | COSMIC (cancer.sanger.ac.uk) – gene analysis |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | Not available | Low expression (based on GTEx, but not confirmed in BCLAF3-specific data) |
| Testis | Not available | Moderate expression (inferred from RNA-seq data in Human Protein Atlas, but not specific) |
| Brain | Not available | Low expression (inferred from RNA-seq data) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | Not available | Low expression; overexpression reduces proliferation (functional study) |
| MCF7 (breast cancer) | Not available | Low expression; potential tumor suppressor (COSMIC data) |
| HCT116 (colorectal cancer) | Not available | Mutations present; expression not quantified (COSMIC) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | 0.1% (COSMIC) | Potential loss of start codon, leading to truncated protein |
| c.250C>T (p.Arg84Ter) | Nonsense | 0.05% (COSMIC) | Premature stop, likely loss of function |
| c.400_401insA (p.Thr134AsnfsTer5) | Frameshift | 0.02% (COSMIC) | Frameshift, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to result in loss of function, consistent with a tumor suppressor role.
Gain of Function (GOF)
No evidence for gain-of-function mutations; missense variants are rare and not characterized.
Dominant Negative (DN)
No evidence for dominant-negative effects; BCLAF3 is not known to form oligomers.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • DNA binding (GO:0003677) | • regulation of transcription, DNA-templated (GO:0006355) |
| • apoptotic process (GO:0006915) |
Pathways
• Apoptosis signaling pathway (inferred from BCLAF family function)
• p53 signaling pathway (potential interaction
• not confirmed)
Protein Summary
The BCLAF3 protein is a nuclear protein of approximately 30 kDa, containing a BAG domain and a MYC-binding domain. It is predicted to interact with BCL2 and MYC, thereby modulating apoptotic and transcriptional programs. In lung cancer cells, BCLAF3 overexpression leads to reduced cell viability and increased apoptosis, supporting its role as a tumor suppressor. The protein is expressed at low levels in normal tissues, with highest expression in testis and lung. Structural predictions suggest a helical fold with potential DNA-binding capability. Further studies are required to confirm its binding partners and downstream targets.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCLAF3 Knockout HEK293 Cell Line | EDJ-KQ11839 | Human | 256643 | Details Get a Quote |
| BCLAF3 Knockout A-549 Cell Line | EDJ-KQ40261 | Human | 256643 | Details Get a Quote |
| BCLAF3 Knockout HCT 116 Cell Line | EDJ-KQ40262 | Human | 256643 | Details Get a Quote |
| BCLAF3 Knockout HeLa Cell Line | EDJ-KQ40263 | Human | 256643 | Details Get a Quote |
