MUC17: Mucin 17, Cell Surface Associated
A transmembrane mucin involved in epithelial barrier function and cancer
Gene Information Card
| Symbol | MUC17 |
|---|---|
| Full Name | Mucin 17, Cell Surface Associated |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 140453 ncbi.nlm.nih.gov/gene/140453 |
| Ensembl ID | ENSG00000169876 |
| UniProt ID | Q685J3 |
| OMIM ID | 608422 |
| HGNC ID | 16800 |
| Aliases | MUC3, MUC-17 |
Description
MUC17 encodes a transmembrane mucin protein that is primarily expressed on the apical surface of epithelial cells in the gastrointestinal tract. It functions as a protective barrier against pathogens and mechanical stress, and is involved in cell signaling and adhesion. Aberrant expression and mutations in MUC17 have been implicated in gastric and colorectal cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastric cancer | Loss of MUC17 expression contributes to tumor progression and metastasis | PMID: 21573173 |
| Colorectal cancer | Downregulation of MUC17 is associated with poor prognosis and invasive phenotype | PMID: 23359680 |
| Inflammatory bowel disease | Altered MUC17 expression may disrupt mucosal barrier function | PMID: 19041763 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Stomach | 45.2 | High |
| Colon | 32.1 | Medium |
| Small intestine | 28.7 | Medium |
| Esophagus | 15.3 | Low |
| Pancreas | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MKN45 (gastric) | 62.5 | High expression |
| HT-29 (colorectal) | 41.3 | Medium expression |
| Caco-2 (colorectal) | 35.8 | Medium expression |
| HeLa (cervical) | 2.1 | 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% | Loss of function |
| c.4567G>A (p.Gly1523Arg) | Missense | 0.2% | Unknown |
| c.7890_7891insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the transmembrane domain are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations have been reported in MUC17.
Dominant Negative (DN)
No dominant-negative mutations have been described for MUC17.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region | • plasma membrane |
| • protein binding | • carbohydrate binding |
| • extracellular matrix structural constituent |
Pathways
• Mucin-type O-glycan biosynthesis
• Cell surface interactions at the vascular wall
Protein Summary
MUC17 is a type I transmembrane mucin with a large extracellular domain rich in serine and threonine residues that undergo O-glycosylation. The protein forms a protective gel-like layer on epithelial surfaces and participates in cell signaling through its cytoplasmic tail. It is highly expressed in the stomach and colon, and its downregulation is linked to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MUC17 Knockout HEK293 Cell Line | EDJ-KQ9761 | Human | 140453 | Details Get a Quote |
| MUC17 Knockout HeLa Cell Line | EDJ-KQ58430 | Human | 140453 | Details Get a Quote |
| MUC17 Knockout A-549 Cell Line | EDJ-KQ66919 | Human | 140453 | Details Get a Quote |
| MUC17 Knockout HCT 116 Cell Line | EDJ-KQ75323 | Human | 140453 | Details Get a Quote |
