BCAS4 Gene - Breast Carcinoma Amplified Sequence 4
A gene encoding a protein involved in cell proliferation and associated with breast cancer and other malignancies.
Gene Information Card
| Symbol | BCAS4 |
|---|---|
| Full Name | Breast Carcinoma Amplified Sequence 4 |
| Gene Type | Protein-coding |
| Chromosomal Location | 20q13.13 |
| NCBI Gene ID | 54885 ncbi.nlm.nih.gov/gene/54885 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9BZ25 |
| OMIM ID | 607452 |
| HGNC ID | 1431 |
| Aliases | FLJ20701, MGC129561, MGC129562 |
Description
BCAS4 (Breast Carcinoma Amplified Sequence 4) is a protein-coding gene located on chromosome 20q13.13. It is frequently amplified in breast cancer and other solid tumors. The gene encodes a protein of unknown function but is implicated in cell proliferation and oncogenesis. BCAS4 is also involved in a recurrent fusion gene with BCAS3 in breast cancer cell lines and primary tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Amplification and overexpression of BCAS4 contribute to tumorigenesis through enhanced cell proliferation. | PMID: 14676845; COSMIC |
| Ovarian Cancer | Amplification of 20q13 region including BCAS4 observed in ovarian cancer cell lines. | COSMIC; PMID: 15604238 |
| Prostate Cancer | BCAS4 amplification detected in prostate cancer samples, suggesting a role in progression. | COSMIC; PMID: 17699752 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 3.2 | Low |
| Ovary | 2.8 | Low |
| Prostate | 2.1 | Low |
| Testis | 1.5 | Not detected |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 5.1 | Amplified cell line |
| BT-474 (breast cancer) | 4.7 | Amplified cell line |
| SK-OV-3 (ovarian cancer) | 3.0 | Moderate expression |
| HeLa (cervical cancer) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Potential loss of start codon; effect unknown |
| c.124C>T (p.Arg42Cys) | Missense | <0.1% | Substitution in conserved region; functional impact unclear |
| BCAS4-BCAS3 fusion | Gene fusion | Rare | Recurrent fusion in breast cancer; may drive oncogenesis |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in BCAS4.
Gain of Function (GOF)
Amplification and overexpression of BCAS4 are associated with gain-of-function in breast cancer.
Dominant Negative (DN)
No dominant-negative mutations described for BCAS4.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) | • cell proliferation (GO:0008283) |
Pathways
• PI3K-Akt signaling pathway (Reactome: R-HSA-1257604)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006925)
Protein Summary
The BCAS4 protein (UniProt Q9BZ25) is a 222-amino acid protein with no characterized domains. It is localized to the cytoplasm and nucleus. Its exact molecular function remains unknown, but it is implicated in cell proliferation. The protein is overexpressed in breast cancer due to gene amplification and may interact with other oncogenic pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCAS4 Knockout HEK293 Cell Line | EDJ-KQ12522 | Human | 55653 | Details Get a Quote |
| BCAS4 Knockout A-549 Cell Line | EDJ-KQ41510 | Human | 55653 | Details Get a Quote |
| BCAS4 Knockout HeLa Cell Line | EDJ-KQ41511 | Human | 55653 | Details Get a Quote |
| BCAS4 Knockout HCT 116 Cell Line | EDJ-KQ40222 | Human | 55653 | Details Get a Quote |
