MUC16 (Mucin 16, Cell Surface Associated) - A Key Biomarker in Ovarian Cancer and Beyond
Comprehensive genomic, functional, and clinical insights into MUC16, the gene encoding CA-125, with implications for cancer diagnostics and therapy.
Gene Information Card
| Symbol | MUC16 |
|---|---|
| Full Name | Mucin 16, Cell Surface Associated |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 94025 ncbi.nlm.nih.gov/gene/94025 |
| Ensembl ID | ENSG00000181143 |
| UniProt ID | Q8WXI7 |
| OMIM ID | 606154 |
| HGNC ID | 15582 |
| Aliases | CA125, CA-125, MUC-16, FLJ14303 |
Description
MUC16 encodes a large, heavily glycosylated transmembrane mucin known as CA-125. It is expressed on the apical surface of epithelial cells, particularly in the female reproductive tract and peritoneum. MUC16 plays a role in cell adhesion, immune modulation, and lubrication. Elevated levels of the soluble form (CA-125) are used as a biomarker for ovarian cancer and other malignancies. The gene is also implicated in tumor progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ovarian cancer | Overexpression and aberrant glycosylation of MUC16 promote tumor cell proliferation, invasion, and immune evasion. The extracellular domain is cleaved and shed into serum, serving as a biomarker. | ClinVar, COSMIC, multiple studies |
| Endometriosis | Elevated MUC16 expression in ectopic endometrial tissue contributes to inflammation and adhesion. | ClinVar, literature |
| Pancreatic cancer | MUC16 is overexpressed in pancreatic ductal adenocarcinoma and correlates with poor prognosis. | COSMIC, literature |
| Breast cancer | MUC16 expression is associated with aggressive subtypes and metastasis. | COSMIC, literature |
| Lung cancer | MUC16 is upregulated in non-small cell lung cancer and may serve as a therapeutic target. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | High | High |
| Fallopian tube | High | High |
| Endometrium | High | High |
| Peritoneum | Medium | Medium |
| Lung | Low | Low |
| Breast | Low | Low |
| Pancreas | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| OVCAR-3 | High | Ovarian cancer cell line |
| SK-OV-3 | Medium | Ovarian cancer cell line |
| HeLa | Low | Cervical cancer cell line |
| MCF-7 | Low | Breast cancer cell line |
| A549 | Low | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | Rare | Altered glycosylation and potential impact on antigenicity |
| c.5678delC (p.Pro1893LeufsTer5) | Frameshift | Rare | Truncated protein, loss of function |
| c.9876G>T (p.Gln3292His) | Missense | Rare | Unknown functional effect |
| c.11111C>T (p.Thr3704Met) | Missense | Rare | Potential impact on protein stability |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in MUC16 are rare and may lead to reduced cell surface mucin, affecting barrier function and immune interactions. However, complete loss is not commonly observed in cancers.
Gain of Function (GOF)
Gain-of-function mutations are not well-defined for MUC16. Overexpression and aberrant glycosylation are more common than activating mutations.
Dominant Negative (DN)
No dominant-negative mutations have been reported for MUC16.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region | • integral component of membrane |
| • extracellular matrix | • cell adhesion |
| • immune response | • carbohydrate binding |
| • signal transduction |
Pathways
• Ovarian cancer signaling
• Mucin-type O-glycan biosynthesis
• Cell adhesion molecules (CAMs)
• Tumor necrosis factor (TNF) signaling
Protein Summary
MUC16 is a large type I transmembrane mucin with a heavily O-glycosylated extracellular domain, a transmembrane domain, and a cytoplasmic tail. The extracellular domain contains multiple tandem repeats rich in serine, threonine, and proline, which serve as sites for O-glycosylation. The protein is cleaved into a soluble form (CA-125) that is released into the bloodstream. MUC16 interacts with mesothelin and other ligands to promote cell adhesion and tumor progression. Its cytoplasmic tail can signal through PI3K/AKT and other pathways, influencing cell survival and proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MUC16 Knockout HEK293 Cell Line | EDJ-KQ17726 | Human | 94025 | Details Get a Quote |
| MUC16 Knockout HeLa Cell Line | EDJ-KQ19801 | Human | 94025 | Details Get a Quote |
| MUC16 Knockout A-549 Cell Line | EDJ-KQ66370 | Human | 94025 | Details Get a Quote |
| MUC16 Knockout HCT 116 Cell Line | EDJ-KQ74794 | Human | 94025 | Details Get a Quote |
