BCAS3 Gene - Breast Carcinoma Amplified Sequence 3
Comprehensive genomic and functional analysis of BCAS3, a gene amplified in breast cancer and associated with developmental disorders.
Gene Information Card
| Symbol | BCAS3 |
|---|---|
| Full Name | Breast Carcinoma Amplified Sequence 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q23.2 |
| NCBI Gene ID | 54828 ncbi.nlm.nih.gov/gene/54828 |
| Ensembl ID | ENSG00000141380 |
| UniProt ID | Q9H6U6 |
| OMIM ID | 607470 |
| HGNC ID | 1432 |
| Aliases | GAOB1, MAAB, PRO2000, BCAS3P1 |
Description
BCAS3 (Breast Carcinoma Amplified Sequence 3) is a protein-coding gene located on chromosome 17q23.2. It is frequently amplified in breast cancer and other malignancies. The encoded protein is involved in cell migration, angiogenesis, and cytoskeletal organization. Mutations and amplifications of BCAS3 are associated with cancer progression and, in rare cases, with neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Gene amplification and overexpression promote tumor growth and metastasis. | NCBI Gene, COSMIC |
| Ovarian cancer | Amplification of 17q23 region including BCAS3 contributes to oncogenesis. | COSMIC |
| Colorectal cancer | BCAS3 overexpression linked to poor prognosis and invasive phenotype. | NCBI Gene |
| Neurodevelopmental disorder with microcephaly and spasticity | Homozygous loss-of-function mutations impair neuronal development. | OMIM #607470, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 12.5 | Medium |
| Ovary | 8.3 | Low |
| Brain | 6.1 | Low |
| Colon | 10.2 | Medium |
| Lung | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.4 | High expression; amplified in breast cancer cell lines |
| HeLa (cervical cancer) | 9.2 | Moderate expression |
| HCT116 (colorectal cancer) | 11.0 | Moderate expression |
| A549 (lung cancer) | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.187C>T (p.Arg63*) | Nonsense | Rare | Loss of function; associated with neurodevelopmental disorder |
| c.1024A>G (p.Thr342Ala) | Missense | Rare | Uncertain significance; reported in ClinVar |
| Amplification (17q23.2) | Copy number gain | Frequent in breast cancer | Overexpression; oncogenic effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein; associated with autosomal recessive neurodevelopmental disorder.
Gain of Function (GOF)
Gene amplification and overexpression in breast and ovarian cancers; promotes cell proliferation and migration.
Dominant Negative (DN)
Not reported for BCAS3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PI3K-Akt signaling pathway (Reactome R-HSA-1257604)
• Regulation of actin cytoskeleton (KEGG hsa04810)
• Focal adhesion (KEGG hsa04510)
Protein Summary
The BCAS3 protein (UniProt Q9H6U6) is a 1,104-amino acid protein localized to the cytoplasm and plasma membrane. It contains coiled-coil domains and interacts with cytoskeletal components. BCAS3 regulates cell migration and angiogenesis through modulation of Rho GTPase signaling. Overexpression due to gene amplification contributes to cancer cell invasiveness.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCAS3 Knockout HEK293 Cell Line | EDJ-KQ10496 | Human | 54828 | Details Get a Quote |
| BCAS3 Knockout A-549 Cell Line | EDJ-KQ37898 | Human | 54828 | Details Get a Quote |
| BCAS3 Knockout HCT 116 Cell Line | EDJ-KQ37899 | Human | 54828 | Details Get a Quote |
| BCAS3 Knockout HeLa Cell Line | EDJ-KQ37900 | Human | 54828 | Details Get a Quote |
