MSLN (Mesothelin) Gene: Structure, Function, and Clinical Significance
Comprehensive biomedical overview of the MSLN gene, including genomic context, protein function, expression patterns, and disease associations.
Gene Information Card
| Symbol | MSLN |
|---|---|
| Full Name | Mesothelin |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 10232 ncbi.nlm.nih.gov/gene/10232 |
| Ensembl ID | ENSG00000102854 |
| UniProt ID | Q13421 |
| OMIM ID | 601051 |
| HGNC ID | 7371 |
| Aliases | MPF, SMRP, CAK1, MSLN-1, MSLN-2 |
Description
The MSLN gene encodes mesothelin, a glycosylphosphatidylinositol (GPI)-anchored cell surface protein. It is normally expressed on mesothelial cells lining the pleura, peritoneum, and pericardium. Mesothelin is overexpressed in several cancers, including malignant mesothelioma, ovarian cancer, and pancreatic adenocarcinoma, and is a target for immunotherapies and diagnostic biomarkers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Malignant mesothelioma | Overexpression of mesothelin on tumor cells promotes cell adhesion, invasion, and resistance to apoptosis. Shed soluble mesothelin-related peptides (SMRP) are used as serum biomarkers. | ClinVar, COSMIC, NCBI Gene |
| Ovarian cancer | High mesothelin expression correlates with poor prognosis and peritoneal metastasis. Mesothelin binds to CA125/MUC16, facilitating tumor implantation. | ClinVar, COSMIC, NCBI Gene |
| Pancreatic adenocarcinoma | Mesothelin is overexpressed in >80% of pancreatic ductal adenocarcinomas and contributes to tumor progression and chemoresistance. | ClinVar, COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pleura | 12.5 | Medium |
| Peritoneum | 10.8 | Medium |
| Pericardium | 9.2 | Medium |
| Lung | 1.3 | Low |
| Ovary | 0.8 | Low |
| Pancreas | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NCI-H226 (mesothelioma) | 45.2 | High expression; commonly used in functional studies |
| OVCAR-3 (ovarian cancer) | 38.7 | High expression; mesothelin-CA125 interaction studied |
| PANC-1 (pancreatic cancer) | 22.1 | Moderate expression; target for immunotherapy models |
| HEK293 (embryonic kidney) | 0.3 | Very low; negative control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Likely loss of start codon; functional impact unknown |
| c.625G>A (p.Gly209Ser) | Missense | <0.1% | Rare variant; no known disease association |
| c.1084C>T (p.Arg362Trp) | Missense | <0.1% | Reported in COSMIC; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations in MSLN are reported in germline or somatic databases.
Gain of Function (GOF)
Overexpression and gene amplification are the primary gain-of-function mechanisms in cancer, rather than specific activating mutations.
Dominant Negative (DN)
No dominant-negative mutations have been described for MSLN.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005886 – plasma membrane | • GO:0009986 – cell surface |
| • GO:0007155 – cell adhesion | • GO:0008283 – cell population proliferation |
| • GO:0043066 – negative regulation of apoptotic process |
Pathways
• Mesothelin-CA125/MUC16 signaling pathway
• Integrin-mediated cell adhesion
• PI3K/Akt signaling (downstream of mesothelin)
Protein Summary
Mesothelin is a 71 kDa GPI-anchored glycoprotein expressed on the surface of mesothelial cells. It is synthesized as a 69 kDa precursor that is cleaved into a 31 kDa N-terminal secreted fragment (megakaryocyte potentiating factor, MPF) and a 40 kDa C-terminal membrane-bound fragment (mesothelin). The membrane-bound form mediates cell adhesion via interaction with CA125/MUC16 and integrins. Overexpression in cancers promotes tumor progression, metastasis, and immune evasion. Soluble mesothelin-related peptides (SMRP) are used as serum biomarkers for mesothelioma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MSLN Overexpression K-562 Stable Cell Line | EDC01466 | Human | 10232 | Details Get a Quote |
| MSLN-Luc GFP Overexpression K-562 Stable Cell Line | EDJ-GQ129 | Human | 10232 | Details Get a Quote |
| MSLN Knockout HEK293 Cell Line | EDJ-KQ17709 | Human | 10232 | Details Get a Quote |
| MSLN Knockout A-549 Cell Line | EDJ-KQ19781 | Human | 10232 | Details Get a Quote |
| MSLN Knockout HCT 116 Cell Line | EDJ-KQ19782 | Human | 10232 | Details Get a Quote |
| MSLN Knockout HeLa Cell Line | EDJ-KQ19783 | Human | 10232 | Details Get a Quote |
| MSLN Knockout HEK293T Cell Line | EDC08273 | Human | 10232 | Details Get a Quote |
| MSLN-LUC Overexpression K-562 Stable Cell Line | EDC01467 | Human | 10232 | Details Get a Quote |
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