MUC6: Mucin 6, Gastric Mucin
Key component of gastric mucosal protection and potential tumor suppressor in gastrointestinal cancers.
Gene Information Card
| Symbol | MUC6 |
|---|---|
| Full Name | Mucin 6, Oligomeric Mucus/Gel-Forming |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 4588 ncbi.nlm.nih.gov/gene/4588 |
| Ensembl ID | ENSG00000184956 |
| UniProt ID | Q6W4X9 |
| OMIM ID | 158374 |
| HGNC ID | 7516 |
| Aliases | MUC-6, mucin 6 |
Description
MUC6 encodes a member of the mucin family, a large glycoprotein that forms an insoluble mucous barrier in the gastrointestinal tract. This gel-forming mucin is primarily expressed in the gastric mucosa, particularly in the mucous neck cells and antral glands, where it protects the epithelium from acid, digestive enzymes, and pathogens such as Helicobacter pylori. MUC6 is also expressed in the gallbladder, pancreas, and certain other tissues. Alterations in MUC6 expression and glycosylation are implicated in gastric carcinogenesis and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastric Cancer | Loss of MUC6 expression is associated with gastric carcinogenesis, particularly in intestinal-type adenocarcinoma. Reduced MUC6 may impair mucosal defense, facilitating H. pylori colonization and inflammation. | PMID: 11592034; NCBI GeneRIF |
| Helicobacter pylori Infection | MUC6 binds to H. pylori and modulates bacterial adhesion and colonization. Altered MUC6 glycosylation can influence infection outcome. | PMID: 15173162 |
| Pancreatic Cancer | Aberrant MUC6 expression is observed in pancreatic intraepithelial neoplasia and pancreatic ductal adenocarcinoma, suggesting a role in early neoplastic transformation. | PMID: 17290013 |
| Gallbladder Carcinoma | MUC6 is expressed in gallbladder epithelium and its altered expression is linked to gallbladder carcinogenesis. | PMID: 18628468 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Stomach | 112.3 | High |
| Gallbladder | 45.6 | Medium |
| Pancreas | 12.1 | Low |
| Duodenum | 8.5 | Low |
| Esophagus | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| AGS (gastric adenocarcinoma) | 15.4 | Moderate expression |
| KATO III (gastric carcinoma) | 8.2 | Low expression |
| MKN45 (gastric carcinoma) | 22.1 | Moderate expression |
| PANC-1 (pancreatic carcinoma) | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Premature stop codon; likely loss of function |
| c.4567_4568insA (p.Thr1523Asnfs*2) | Frameshift | <0.1% | Frameshift leading to truncated protein |
| c.7890G>A (p.Trp2630*) | Nonsense | <0.1% | Loss of function variant |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in MUC6 are predicted to result in truncated, non-functional mucin, impairing mucosal barrier integrity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MUC6.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for MUC6.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • extracellular space (GO:0005615) |
| • extracellular matrix organization (GO:0030198) | • extracellular exosome (GO:0070062) |
| • structural molecule activity (GO:0005198) | • proteinaceous extracellular matrix (GO:0005578) |
Pathways
• Mucin-type O-glycan biosynthesis (KEGG: hsa00512)
• Gastric acid secretion (KEGG: hsa04971)
• Salivary secretion (KEGG: hsa04970)
Protein Summary
MUC6 is a large, gel-forming mucin glycoprotein (approximately 2,500 amino acids) characterized by tandem repeat domains rich in serine, threonine, and proline, which are heavily O-glycosylated. The protein forms disulfide-linked oligomers that contribute to the viscoelastic properties of mucus. MUC6 is secreted by mucous neck cells and antral gland cells in the stomach, where it provides a protective barrier against acid, pepsin, and microbial pathogens. Its expression is regulated by inflammatory cytokines and bacterial factors. Aberrant glycosylation and reduced expression are associated with gastric cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MUC6 Knockout HEK293 Cell Line | EDJ-KQ2988 | Human | 4588 | Details Get a Quote |
| MUC6 Knockout HeLa Cell Line | EDJ-KQ53925 | Human | 4588 | Details Get a Quote |
| MUC6 Knockout A-549 Cell Line | EDJ-KQ62417 | Human | 4588 | Details Get a Quote |
| MUC6 Knockout HCT 116 Cell Line | EDJ-KQ70885 | Human | 4588 | Details Get a Quote |
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