BABAM2
BRCA1-A Complex Subunit BABAM2
Gene Information Card
| Symbol | BABAM2 |
|---|---|
| Full Name | BRCA1-A complex subunit BABAM2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p22.3 |
| NCBI Gene ID | 9577 ncbi.nlm.nih.gov/gene/9577 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q9H8L6 |
| OMIM ID | 610178 |
| HGNC ID | 29957 |
| Aliases | BRE, BRCC45, C2orf27 |
Description
BABAM2 (BRCA1-A complex subunit BABAM2) encodes a component of the BRCA1-A complex, which is involved in DNA double-strand break repair via homologous recombination. The protein interacts with BRCA1 and other complex members to facilitate ubiquitin signaling at sites of DNA damage. It is also implicated in cell cycle checkpoint control and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression or mutation may disrupt BRCA1-A complex function, impairing DNA repair and promoting genomic instability. | PMID: 19261748 |
| Ovarian cancer | Similar mechanism as breast cancer; loss of BABAM2 function may contribute to tumorigenesis. | PMID: 19261748 |
| Fanconi anemia | Potential involvement in DNA repair pathways; direct evidence limited. | PMID: 19261748 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 9.8 | Medium |
| Brain | 6.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 12.3 | Moderate expression |
| MCF7 | 8.7 | Low expression |
| K562 | 11.4 | Moderate 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% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • double-strand break repair via homologous recombination |
| • protein ubiquitination | • cell cycle checkpoint |
| • apoptotic process |
Pathways
• BRCA1-A complex pathway
• Homologous recombination repair
• Ubiquitin-mediated proteolysis
Protein Summary
BABAM2 is a 45 kDa protein that localizes to the nucleus and forms part of the BRCA1-A complex. It contains a coiled-coil domain and interacts with BRCA1, BARD1, and other complex subunits. The protein is essential for the recruitment of BRCA1 to sites of DNA damage and for the subsequent ubiquitin signaling that promotes repair.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BABAM2 Knockout HEK293 Cell Line | EDJ-KQ3218 | Human | 9577 | Details Get a Quote |
| BABAM2 Knockout A-549 Cell Line | EDJ-KQ24707 | Human | 9577 | Details Get a Quote |
| BABAM2 Knockout HCT 116 Cell Line | EDJ-KQ24708 | Human | 9577 | Details Get a Quote |
| BABAM2 Knockout HeLa Cell Line | EDJ-KQ24709 | Human | 9577 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
