ABRAXAS2 Gene - BRCA1-A Complex Subunit
Key regulator of DNA double-strand break repair and genome stability
Gene Information Card
| Symbol | ABRAXAS2 |
|---|---|
| Full Name | Abraxas 2, BRCA1 A Complex Subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 10q25.1 |
| NCBI Gene ID | 23172 ncbi.nlm.nih.gov/gene/23172 |
| Ensembl ID | ENSG00000165806 |
| UniProt ID | Q6UWZ7 |
| OMIM ID | 611114 |
| HGNC ID | 25849 |
| Aliases | FAM175B, ABRO1, KIAA0152 |
Description
ABRAXAS2 (also known as FAM175B or ABRO1) encodes a component of the BRCA1-A complex, which is essential for the repair of DNA double-strand breaks via homologous recombination. The protein interacts with BRCA1, RAP80, and other factors to facilitate the recruitment of repair machinery to sites of DNA damage. ABRAXAS2 is involved in maintaining genome stability and its dysregulation is linked to cancer susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of ABRAXAS2 impairs BRCA1-A complex function, leading to defective DNA repair and genomic instability | PMID: 22980975 |
| Ovarian cancer | Reduced expression of ABRAXAS2 correlates with poor prognosis and homologous recombination deficiency | PMID: 25964277 |
| Fanconi anemia-like phenotype | Biallelic mutations in ABRAXAS2 cause bone marrow failure and developmental abnormalities | PMID: 31006510 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Medium |
| Lymph node | 7.1 | Medium |
| Breast | 5.2 | Low |
| Ovary | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney |
| MCF7 | 6.5 | Breast cancer |
| HeLa | 5.9 | Cervical cancer |
| K562 | 7.8 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | 0.02% | Impaired BRCA1 binding |
| c.1000delG (p.Glu334fs) | Frameshift | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the BRCA1-binding domain lead to loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in the coiled-coil domain may exert dominant-negative effects by sequestering wild-type partners.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000724 - double-strand break repair via homologous recombination | • GO:0035861 - site of double-strand break |
| • GO:0043235 - receptor complex | • GO:0005515 - protein binding |
| • GO:0005634 - nucleus |
Pathways
• BRCA1-A complex mediated DNA damage response
• Homologous recombination repair
• Fanconi anemia pathway
Protein Summary
ABRAXAS2 is a 409-amino acid protein that contains a coiled-coil domain and a conserved ABRAXAS family domain. It localizes to sites of DNA double-strand breaks via interaction with RAP80 and recruits BRCA1 to chromatin. The protein is essential for the ubiquitin-dependent signaling cascade that activates DNA repair. ABRAXAS2 also modulates cell cycle checkpoints and apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABRAXAS2 Knockout HEK293 Cell Line | EDJ-KQ7876 | Human | 23172 | Details Get a Quote |
| ABRAXAS2 Knockout A-549 Cell Line | EDJ-KQ33458 | Human | 23172 | Details Get a Quote |
| ABRAXAS2 Knockout HCT 116 Cell Line | EDJ-KQ33459 | Human | 23172 | Details Get a Quote |
| ABRAXAS2 Knockout HeLa Cell Line | EDJ-KQ33460 | Human | 23172 | Details Get a Quote |
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