MUC4 Mucin 4, Cell Surface Associated
A high-molecular-weight transmembrane mucin involved in epithelial protection, cell signaling, and tumor progression.
Gene Information Card
| Symbol | MUC4 |
|---|---|
| Full Name | Mucin 4, Cell Surface Associated |
| Gene Type | Protein coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 4585 ncbi.nlm.nih.gov/gene/4585 |
| Ensembl ID | ENSG00000145113 |
| UniProt ID | Q99102 |
| OMIM ID | 158372 |
| HGNC ID | 7514 |
| Aliases | MUC-4, ASGP, HSA276359, MUC4A, MUC4B |
Description
MUC4 encodes a large transmembrane mucin protein that is heavily O-glycosylated. It is expressed on the apical surface of epithelial cells in various tissues, including the respiratory tract, gastrointestinal tract, and reproductive organs. MUC4 functions as a protective barrier against pathogens and mechanical stress, and also participates in cell signaling through its EGF-like domains. Aberrant expression and mutations are associated with several cancers, particularly pancreatic and ovarian carcinomas.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pancreatic adenocarcinoma | Overexpression of MUC4 promotes tumor cell proliferation and metastasis via ErbB2/ErbB3 signaling | PMID: 15159317; COSMIC |
| Ovarian carcinoma | MUC4 upregulation correlates with poor prognosis and chemoresistance | PMID: 18332868; ClinVar |
| Gastric cancer | Altered glycosylation and expression of MUC4 contribute to tumor progression | PMID: 20648659; NCBI Gene |
| Cystic fibrosis | MUC4 expression is altered in airway epithelium, affecting mucus clearance | PMID: 11574891; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Trachea | 12.5 | Medium |
| Lung | 8.3 | Low |
| Stomach | 15.1 | Medium |
| Colon | 9.7 | Low |
| Pancreas | 6.2 | Low |
| Prostate | 4.8 | Low |
| Ovary | 11.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 (pancreatic cancer) | 18.4 | High expression; associated with invasive phenotype |
| MCF7 (breast cancer) | 2.1 | Low expression |
| HeLa (cervical cancer) | 5.6 | Moderate expression |
| A549 (lung cancer) | 7.3 | Moderate expression |
| OVCAR-3 (ovarian cancer) | 22.0 | High expression; linked to chemoresistance |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1061C>T | Missense | 0.02% (gnomAD) | p.Thr354Met; uncertain significance |
| c.2345_2346insA | Frameshift | Rare | Predicted loss of function; reported in pancreatic cancer |
| c.4567G>A | Nonsense | 0.001% | p.Trp1523*; premature stop, likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, reducing mucin barrier function.
Gain of Function (GOF)
Overexpression and gene amplification in cancers enhance oncogenic signaling via ErbB2.
Dominant Negative (DN)
Not well documented for MUC4; most pathogenic variants are loss-of-function or overexpression.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • integral component of membrane (GO:0016021) |
| • glycoprotein binding (GO:0030267) | • structural molecule activity (GO:0005198) |
| • cell adhesion (GO:0007155) | • cell differentiation (GO:0030154) |
Pathways
• ErbB signaling pathway (KEGG: hsa04012)
• Mucin type O-glycan biosynthesis (KEGG: hsa00512)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
Protein Summary
MUC4 is a large, heavily glycosylated transmembrane mucin (approx. 930 kDa) composed of a mucin domain and a growth factor-like domain. It is synthesized as a single polypeptide that undergoes proteolytic cleavage into two subunits: a large extracellular alpha subunit (MUC4α) and a membrane-bound beta subunit (MUC4β). The beta subunit contains EGF-like domains that can activate ErbB2/ErbB3 signaling, promoting cell proliferation and survival. MUC4 is expressed on the apical surface of epithelial cells and is upregulated in many adenocarcinomas.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MUC4 Knockout HEK293 Cell Line | EDJ-KQ5270 | Human | 4585 | Details Get a Quote |
| MUC4 Knockout HeLa Cell Line | EDJ-KQ53924 | Human | 4585 | Details Get a Quote |
| MUC4 Knockout A-549 Cell Line | EDJ-KQ62416 | Human | 4585 | Details Get a Quote |
| MUC4 Knockout HCT 116 Cell Line | EDJ-KQ70883 | Human | 4585 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
