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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MUC6
mucin 6, oligomeric mucus/gel-forming (gene/pseudogene)
Chromosome 11 · 11p15.5
NCBI Gene: 4588Ensembl: ENSG00000184956.16HGNC: HGNC:7517UniProt: Q6W4X9
73PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GO:0005615extracellular matrixextracellular matrix structural constituentplasma membranepeptic ulcer diseasehypertrophic cardiomyopathysquamous cell lung carcinomapostinflammatory pulmonary fibrosis
✦AI Summary

MUC6 is a gel-forming mucin primarily expressed in gastrointestinal epithelium that plays a crucial role in maintaining epithelial barrier integrity and gastric mucosal protection 1. The protein functions through extensive glycosylation and interaction with trefoil factor 2 (TFF2), which stabilizes the gastric mucus barrier via lectin interactions with specific glycotopes 2. MUC6 modulates protective mucus composition in response to acid secretion, bacterial presence, and noxious agents 1. Genetically, MUC6 variants contribute to peptic ulcer disease susceptibility through roles in Helicobacter pylori infection response and gastric acid secretion 3. A variable number tandem repeat (VNTR) polymorphism within MUC6 has been associated with Alzheimer's disease tau pathology and may influence AP2A2 gene expression 4. MUC6 loss is frequently associated with gastric cancer development, with Muc6 knockout mice spontaneously developing pan-gastritis and invasive gastric tumors through Golgi stress-induced mitogen-activated protein kinase activation and aberrant mannose-rich glycosylation 5. Conversely, MUC6 upregulation serves as a biomarker in prostate cancer, and MUC6 glycoforms offer therapeutic targets 1. MUC6 expression is also useful diagnostically for identifying gastric-type adenocarcinoma in endocervical lesions, though with moderate sensitivity and specificity 6.

Sources cited
1
MUC6 variants identified in GWAS for peptic ulcer disease; roles in H. pylori infection response and gastric acid secretion
PMID: 33608531
2
Muc6 deletion causes gastric cancer through Golgi stress, MAPK activation, and aberrant mannose glycosylation
PMID: 38583723
3
MUC6 VNTR polymorphism associated with Alzheimer's disease tau pathology; may influence AP2A2 expression
PMID: 32357373
4
MUC6 glycosylation role in cancer development; loss in gastric cancer, upregulation in prostate cancer; MUC6-Tn glycoforms as therapeutic targets
PMID: 40910251
5
TFF2 interaction with MUC6 stabilizes gastric mucus barrier through lectin-glycotope interactions and maintains mucosal integrity
PMID: 26201258
6
MUC6 diagnostic accuracy for endocervical gastric-type adenocarcinoma: sensitivity 0.51, specificity 0.74
PMID: 36527837
7
MUC6 highly sensitive marker for gastric-type glandular lesions but lower specificity than Claudin18.2; useful in diagnostic panels
PMID: 40490055
Disease Associationsⓘ20
peptic ulcer diseaseOpen Targets
0.33Weak
hypertrophic cardiomyopathyOpen Targets
0.26Weak
squamous cell lung carcinomaOpen Targets
0.25Weak
postinflammatory pulmonary fibrosisOpen Targets
0.24Weak
hepatocellular carcinomaOpen Targets
0.24Weak
respiratory system diseaseOpen Targets
0.22Weak
idiopathic pulmonary fibrosisOpen Targets
0.22Weak
acute myeloid leukemiaOpen Targets
0.21Weak
oral squamous cell carcinomaOpen Targets
0.20Weak
HirsutismOpen Targets
0.20Weak
head and neck squamous cell carcinomaOpen Targets
0.19Weak
gastric carcinomaOpen Targets
0.19Weak
pancreatic ductal adenocarcinomaOpen Targets
0.19Weak
gastric adenocarcinomaOpen Targets
0.19Weak
endometrial carcinomaOpen Targets
0.19Weak
lung adenocarcinomaOpen Targets
0.19Weak
breast carcinomaOpen Targets
0.19Weak
prostate adenocarcinomaOpen Targets
0.19Weak
esophageal adenocarcinomaOpen Targets
0.19Weak
colon adenocarcinomaOpen Targets
0.19Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MUC13Protein interaction98%MUC15Protein interaction93%MUC12Protein interaction93%MUC20Protein interaction93%MUC16Protein interaction93%MUC5BProtein interaction92%
Tissue Expression6 tissues
Liver
100%
Brain
14%
Bone Marrow
14%
Heart
4%
Ovary
1%
Lung
1%
Gene Interaction Network
Click a node to explore
MUC6MUC13MUC15MUC12MUC20MUC16MUC5B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6W4X9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.19LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.06 [0.94–1.19]
RankingsWhere MUC6 stands among ~20K protein-coding genes
  • #6,483of 20,598
    Most Researched73
  • #12,520of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedMUC6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
GWAS of peptic ulcer disease implicates Helicobacter pylori infection, other gastrointestinal disorders and depression.
PMID: 33608531
Nat Commun · 2021
1.00
2
Impaired Glycosylation of Gastric Mucins Drives Gastric Tumorigenesis and Serves as a Novel Therapeutic Target.
PMID: 38583723
Gastroenterology · 2024
0.90
3
The MUC6/AP2A2 Locus and Its Relevance to Alzheimer's Disease: A Review.
PMID: 32357373
J Neuropathol Exp Neurol · 2020
0.80
4
Multiple roles and mechanisms of MUC6 in cancer (Review).
PMID: 40910251
Int J Mol Med · 2025
0.70
5
MUC1, MUC5AC, and MUC6 polymorphisms, Helicobacter pylori infection, and gastric cancer: a systematic review and meta-analysis.
PMID: 28489708
Eur J Cancer Prev · 2018
0.60