BCAS2: A Key Component of the Spliceosome and DNA Repair Complex
Comprehensive genomic and functional overview of BCAS2, a gene involved in pre-mRNA splicing and genome stability.
Gene Information Card
| Symbol | BCAS2 |
|---|---|
| Full Name | Breast Carcinoma Amplified Sequence 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.2 |
| NCBI Gene ID | 10286 ncbi.nlm.nih.gov/gene/10286 |
| Ensembl ID | ENSG00000116731 |
| UniProt ID | O75934 |
| OMIM ID | 605783 |
| HGNC ID | HGNC:975 |
| Aliases | DAM1, SPF27, CDC5L complex-associated protein 1 |
Description
BCAS2 (Breast Carcinoma Amplified Sequence 2) encodes a protein that is a component of the spliceosome and the PRP19-CDC5L complex, essential for pre-mRNA splicing. It also participates in DNA double-strand break repair via homologous recombination. BCAS2 is amplified in breast cancer and may contribute to tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Amplification and overexpression of BCAS2 may promote cell proliferation and genomic instability. | NCBI Gene, COSMIC |
| Prostate Cancer | Altered expression linked to disease progression; functional role in DNA repair. | COSMIC, ClinVar |
| Lung Cancer | Somatic mutations and copy number alterations observed. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Breast | 8.2 | Low |
| Lung | 6.1 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (Breast cancer) | 10.1 | High expression |
| A549 (Lung cancer) | 7.8 | Moderate expression |
| HEK293 (Embryonic kidney) | 9.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown functional impact |
| c.214C>T | Nonsense | Rare | Predicted loss of function |
| Amplification | Copy number gain | Frequent in breast cancer | Overexpression |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein; likely loss of splicing function.
Gain of Function (GOF)
Amplification and overexpression may confer gain-of-function in cancer.
Dominant Negative (DN)
Not well characterized; potential dominant-negative effects from missense mutations in spliceosome complex.
View complete mutation data：
Gene Ontology (GO)
| • mRNA splicing (GO:0000398) | • nucleus (GO:0005634) |
| • spliceosomal complex (GO:0005681) | • double-strand break repair (GO:0006302) |
| • cadherin binding (GO:0045296) |
Pathways
• Spliceosome (KEGG: hsa03040)
• Homologous recombination (KEGG: hsa03440)
• PRP19-CDC5L complex pathway
Protein Summary
The BCAS2 protein (UniProt O75934) is a 225-amino acid component of the spliceosome and the PRP19-CDC5L complex. It contains a coiled-coil domain and is involved in pre-mRNA splicing and DNA repair. The protein interacts with CDC5L, PLRG1, and PRPF19, and is essential for cell viability.
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