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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MUC12
mucin 12, cell surface associated
Chromosome 7 · 7q22.1
NCBI Gene: 10071Ensembl: ENSG00000205277.11HGNC: HGNC:7510UniProt: Q9UKN1
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
regulation of cell growthGolgi lumenplasma membranemembranehemorrhoidneurodegenerative diseasemyxedemahypothyroidism
✦AI Summary

MUC12 is a transmembrane mucin that functions in epithelial cell protection and barrier maintenance. In normal intestinal epithelium, MUC12 forms part of the enterocyte glycocalyx, contributing to the gastrointestinal tract's defense against pathogens by limiting bacterial access to the epithelium 1. The protein is localized to the apical membrane of normal epithelial cells in the colon and small intestine 2. MUC12 expression is dysregulated in disease states. Patients with active ulcerative colitis show significantly reduced MUC12 gene expression compared to those in remission and healthy controls, indicating impaired mucosal barrier function 3. Conversely, MUC12 is aberrantly overexpressed in renal cell carcinoma (RCC) and colorectal tumors, where it exhibits depolarized membrane localization rather than apical restriction 2. In RCC, MUC12 overexpression promotes cell growth and invasion through c-Jun-mediated transactivation of TGF-β1 signaling 4. MUC12 stability is regulated by ubiquitination mechanisms involving the piRNA-1742/hnRNPU/USP8 axis in RCC 5. MUC12's differential expression patterns between normal and tumor cells, combined with its role in both barrier function and oncogenic signaling, make it a candidate biomarker for disease severity and a potential therapeutic target for both inflammatory bowel disease and cancer.

Sources cited
1
MUC12 is a transmembrane mucin that forms the enterocyte glycocalyx and contributes to gastrointestinal tract defense
PMID: 24942678
2
MUC12 gene expression is significantly reduced in patients with active ulcerative colitis compared to remission and normal controls
PMID: 26770020
3
MUC12 is highly expressed in colorectal tumors with depolarized membrane localization, contrasting with apical restriction in normal epithelial cells
PMID: 34376583
4
MUC12 overexpression promotes RCC cell growth and invasion through c-Jun-dependent TGF-β1 signaling
PMID: 32596961
5
MUC12 ubiquitination is regulated by the piRNA-1742/hnRNPU/USP8 axis in RCC progression
PMID: 37332045
Disease Associationsⓘ20
hemorrhoidOpen Targets
0.31Weak
neurodegenerative diseaseOpen Targets
0.29Weak
myxedemaOpen Targets
0.24Weak
hypothyroidismOpen Targets
0.24Weak
diverticular diseaseOpen Targets
0.22Weak
Parkinson diseaseOpen Targets
0.13Weak
Venous thrombosisOpen Targets
0.11Weak
renal cell carcinomaOpen Targets
0.07Suggestive
Barrett's esophagusOpen Targets
0.05Suggestive
ulcerative colitisOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
esophageal adenocarcinomaOpen Targets
0.04Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
Crohn's diseaseOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
irritable bowel syndromeOpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
OGFRShared pathway100%MUC13Protein interaction97%MUC15Protein interaction93%MUC1Protein interaction93%MUC2Protein interaction93%MUC3AProtein interaction93%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
64%
Brain
57%
Lung
31%
Liver
20%
Heart
2%
Gene Interaction Network
Click a node to explore
MUC12OGFRMUC13MUC15MUC1MUC2MUC3A
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9UKN1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.11LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.98 [0.86–1.11]
RankingsWhere MUC12 stands among ~20K protein-coding genes
  • #15,318of 20,598
    Most Researched16
  • #11,455of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedMUC12
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The mucus and mucins of the goblet cells and enterocytes provide the first defense line of the gastrointestinal tract and interact with the immune system.
PMID: 24942678
Immunol Rev · 2014
1.00
2
piRNA-1742 promotes renal cell carcinoma malignancy by regulating USP8 stability through binding to hnRNPU and thereby inhibiting MUC12 ubiquitination.
PMID: 37332045
Exp Mol Med · 2023
0.90
3
SEC14L3 knockdown inhibited clear cell renal cell carcinoma proliferation, metastasis and sunitinib resistance through an SEC14L3/RPS3/NFκB positive feedback loop.
PMID: 39425205
J Exp Clin Cancer Res · 2024
0.80
4
Differential Expression of MUC12, MUC16, and MUC20 in Patients with Active and Remission Ulcerative Colitis.
PMID: 26770020
Mediators Inflamm · 2015
0.70
5
Preclinical Assessment of a MUC12-Targeted BiTE (Bispecific T-cell Engager) Molecule.
PMID: 34376583
Mol Cancer Ther · 2021
0.60