MUC13: Mucin 13, Cell Surface Associated
A transmembrane mucin involved in epithelial barrier function and cancer progression
Gene Information Card
| Symbol | MUC13 |
|---|---|
| Full Name | Mucin 13, Cell Surface Associated |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.3 |
| NCBI Gene ID | 56667 ncbi.nlm.nih.gov/gene/56667 |
| Ensembl ID | ENSG00000173702 |
| UniProt ID | Q9H3R2 |
| OMIM ID | 608929 |
| HGNC ID | 7518 |
| Aliases | DRCC1, MUC-13, MUC13A |
Description
MUC13 encodes a transmembrane mucin protein that is a major component of the epithelial glycocalyx. It is expressed on the apical surface of epithelial cells in various tissues, including the gastrointestinal tract, respiratory tract, and reproductive organs. MUC13 plays a role in cell signaling, barrier function, and lubrication. Overexpression and aberrant glycosylation of MUC13 are associated with several cancers, including gastric, pancreatic, colorectal, and ovarian cancers, where it may promote tumor growth, invasion, and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastric cancer | Overexpression of MUC13 promotes cell proliferation and invasion via activation of ERK and AKT signaling pathways. | PMID: 21573172; COSMIC |
| Pancreatic cancer | MUC13 is upregulated and correlates with poor prognosis; it enhances tumor cell migration and metastasis. | PMID: 20628033; COSMIC |
| Colorectal cancer | MUC13 overexpression is associated with advanced stage and lymph node metastasis; may modulate Wnt/β-catenin signaling. | PMID: 19244119; COSMIC |
| Ovarian cancer | MUC13 is highly expressed in ovarian tumors and may serve as a serum biomarker for early detection. | PMID: 17975018; COSMIC |
| Inflammatory bowel disease | Altered MUC13 expression and glycosylation contribute to disrupted mucosal barrier in ulcerative colitis and Crohn's disease. | PMID: 19076627 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Stomach | 12.5 | Medium |
| Colon | 10.8 | Medium |
| Pancreas | 8.2 | Medium |
| Small intestine | 7.6 | Medium |
| Trachea | 5.4 | Low |
| Lung | 3.1 | Low |
| Ovary | 2.0 | Low |
| Breast | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MKN45 (gastric cancer) | 15.3 | High expression |
| PANC-1 (pancreatic cancer) | 12.1 | High expression |
| HT-29 (colorectal cancer) | 9.8 | Medium expression |
| OVCAR-3 (ovarian cancer) | 7.4 | Medium expression |
| A549 (lung cancer) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.125G>A (p.Arg42His) | Missense | <0.1% | Unknown significance; reported in COSMIC |
| c.487C>T (p.Pro163Ser) | Missense | <0.1% | Unknown significance; reported in COSMIC |
| c.1024A>G (p.Thr342Ala) | Missense | <0.1% | Unknown significance; reported in COSMIC |
| c.1456G>A (p.Gly486Arg) | Missense | <0.1% | Unknown significance; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in MUC13.
Gain of Function (GOF)
Overexpression and altered glycosylation are considered gain-of-function events in cancer, but specific activating mutations are not well characterized.
Dominant Negative (DN)
No dominant-negative mutations reported for MUC13.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005576 - extracellular region | • GO:0016021 - integral component of membrane |
| • GO:0031225 - anchored component of membrane | • GO:0070062 - extracellular exosome |
| • GO:0005198 - structural molecule activity | • GO:0007155 - cell adhesion |
| • GO:0030154 - cell differentiation | • GO:0043062 - extracellular structure organization |
Pathways
• REACTOME: R-HSA-5083635 - Defective MUC13 causes gastric cancer
• KEGG: hsa05200 - Pathways in cancer
• KEGG: hsa05212 - Pancreatic cancer
• KEGG: hsa05226 - Gastric cancer
Protein Summary
MUC13 is a type I transmembrane mucin glycoprotein with a large extracellular domain containing multiple O-glycosylated tandem repeats, a SEA (sea-urchin sperm protein, enterokinase, agrin) domain, a transmembrane domain, and a short cytoplasmic tail. The extracellular domain is heavily glycosylated, contributing to the protective mucus layer. The SEA domain undergoes autoproteolysis, which may regulate shedding of the extracellular domain. The cytoplasmic tail contains potential phosphorylation sites that may participate in intracellular signaling. MUC13 is implicated in cell adhesion, signaling, and tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MUC13 Knockout HEK293 Cell Line | EDJ-KQ12078 | Human | 56667 | Details Get a Quote |
| MUC13 Knockout A-549 Cell Line | EDJ-KQ40732 | Human | 56667 | Details Get a Quote |
| MUC13 Knockout HeLa Cell Line | EDJ-KQ56748 | Human | 56667 | Details Get a Quote |
| MUC13 Knockout HCT 116 Cell Line | EDC90126 | Human | 56667 | Details Get a Quote |
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