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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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BCAS4
breast carcinoma amplified sequence 4
Chromosome 20 · 20q13.13
NCBI Gene: 55653Ensembl: ENSG00000124243.19HGNC: HGNC:14367UniProt: A0A804CEY2
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Oncogene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
BLOC-1 complexcytoplasmbasal cell carcinomaskin neoplasmskin cancernon-melanoma skin carcinoma
✦AI Summary

BCAS4 (breast carcinoma amplified sequence 4) is a 211 amino acid cytoplasmic protein located at chromosome 20.2 that undergoes amplification and overexpression in breast cancer 1. Originally identified as a novel gene with no homologies to known proteins, BCAS4 can form fusion transcripts with other genes; notably, BCAS3-BCAS4 fusion was detected in MCF7 breast cancer cells and represents a potential oncogenic event 12. In-frame BCAS4 fusion genes (such as BCAS4-AURKA) have been shown to increase viability of breast cancer cells 3. Beyond breast cancer, emerging evidence suggests BCAS4 functions as a competing endogenous RNA (ceRNA) in neurodegeneration, sponging hsa-miR-185-5p to regulate SHISA7 expression during Alzheimer's disease-associated neurofibrillary pathology 4. BCAS4 has also been identified as a significantly mutated gene in head and neck paragangliomas 5 and appears among upregulated proteins in urinary extracellular vesicles from breast cancer patients, suggesting potential utility as a biomarker for cancer screening 6. Additionally, BCAS4 shows promise in molecular classification, contributing to a seven-gene signature for distinguishing grade 3 from grade 4 gliomas with 87.5% classification accuracy 7. The protein is also recognized as a DNA methylation marker in forensic body fluid identification 8.

Sources cited
1
BCAS4 is a 211 amino acid cytoplasmic protein at 20q13.2 that undergoes amplification and overexpression in breast cancer; can form fusion transcripts with BCAS3
PMID: 12378525
2
BCAS4 functions as a ceRNA sponging hsa-miR-185-5p to regulate SHISA7 in Alzheimer's disease neurofibrillary pathology
PMID: 35264942
3
BCAS3-BCAS4 fusion gene detected in breast cancer cell lines; gene fusions occur more frequently in copy number enriched regions
PMID: 23036331
4
In-frame BCAS4-AURKA fusion gene increases viability of breast cancer cells
PMID: 24395524
5
BCAS4 identified as significantly mutated gene in head and neck paragangliomas
PMID: 35460558
6
BCAS4 is upregulated in urinary extracellular vesicles from breast cancer patients and potential biomarker for cancer screening
PMID: 37922300
7
BCAS4 is part of a seven-gene signature for distinguishing grade 3 from grade 4 gliomas with 87.5% classification accuracy
PMID: 38150033
8
BCAS4 is recognized as DNA methylation marker for forensic body fluid identification
PMID: 38385810
Disease Associationsⓘ20
basal cell carcinomaOpen Targets
0.48Moderate
skin neoplasmOpen Targets
0.41Moderate
skin cancerOpen Targets
0.40Moderate
non-melanoma skin carcinomaOpen Targets
0.37Weak
keratinocyte carcinomaOpen Targets
0.31Weak
cervical carcinomaOpen Targets
0.28Weak
Pancreatic pseudocystOpen Targets
0.23Weak
Abruptio PlacentaeOpen Targets
0.20Weak
Alzheimer diseaseOpen Targets
0.06Suggestive
ulcerative colitisOpen Targets
0.03Suggestive
metabolic syndrome XOpen Targets
0.03Suggestive
Chronic Obstructive AsthmaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
joint diseaseOpen Targets
0.02Suggestive
lumbar disc degenerationOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
metastasisOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
breast carcinomaOpen Targets
0.00Suggestive
breast neoplasmOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BLOC1S2Protein interaction100%BLOC1S3Protein interaction100%BLOC1S5Protein interaction100%BCAS3Protein interaction98%BLOC1S1Protein interaction86%SNAPINProtein interaction86%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
25%
Heart
22%
Ovary
22%
Lung
18%
Liver
9%
Gene Interaction Network
Click a node to explore
BCAS4BLOC1S2BLOC1S3BLOC1S5BCAS3BLOC1S1SNAPIN
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TDM0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.62 [0.37–1.08]
RankingsWhere BCAS4 stands among ~20K protein-coding genes
  • #16,103of 20,598
    Most Researched13
  • #10,989of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedBCAS4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification and Analysis of
PMID: 35264942
Front Aging Neurosci · 2022
1.00
2
Cloning of BCAS3 (17q23) and BCAS4 (20q13) genes that undergo amplification, overexpression, and fusion in breast cancer.
PMID: 12378525
Genes Chromosomes Cancer · 2002
0.90
3
Somatic Mutation Profiling in Head and Neck Paragangliomas.
PMID: 35460558
J Clin Endocrinol Metab · 2022
0.80
4
Proteomic profiling of urinary extracellular vesicles differentiates breast cancer patients from healthy women.
PMID: 37922300
PLoS One · 2023
0.70
5
Detecting and visualizing gene fusions.
PMID: 23036331
Methods · 2013
0.60