MUC12: Mucin 12, Cell Surface Associated
A transmembrane mucin involved in epithelial barrier function and cancer progression
Gene Information Card
| Symbol | MUC12 |
|---|---|
| Full Name | Mucin 12, Cell Surface Associated |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 10071 ncbi.nlm.nih.gov/gene/10071 |
| Ensembl ID | ENSG00000106344 |
| UniProt ID | Q9UKN1 |
| OMIM ID | 604609 |
| HGNC ID | 7512 |
| Aliases | MUC-12, MUC12A, MUC12B |
Description
MUC12 encodes a member of the mucin family of glycoproteins that are major components of the protective mucus layer on epithelial surfaces. This transmembrane mucin is expressed in various epithelial tissues, particularly in the gastrointestinal tract, and plays a role in cell signaling, adhesion, and barrier function. Altered expression and mutations in MUC12 have been associated with colorectal cancer and other epithelial malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered MUC12 expression and mutations may disrupt epithelial barrier and promote tumorigenesis | COSMIC, ClinVar |
| Pancreatic Cancer | Overexpression of MUC12 is observed and may contribute to tumor progression | NCBI Gene, PubMed |
| Gastric Cancer | Dysregulation of MUC12 expression linked to poor prognosis | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 45.2 | High |
| Small Intestine | 38.7 | High |
| Stomach | 22.1 | Medium |
| Pancreas | 15.3 | Medium |
| Lung | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HT-29 (Colorectal adenocarcinoma) | 52.1 | High expression |
| Caco-2 (Colorectal adenocarcinoma) | 41.3 | High expression |
| MCF7 (Breast adenocarcinoma) | 6.7 | Low expression |
| A549 (Lung carcinoma) | 4.2 | 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; truncation |
| c.5678G>A (p.Gly1893Asp) | Missense | 0.2% | Unknown significance |
| c.9012_9013insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in MUC12 lead to truncated or non-functional protein, potentially impairing mucosal barrier integrity.
Gain of Function (GOF)
No documented gain-of-function mutations for MUC12.
Dominant Negative (DN)
No evidence of dominant-negative effects for MUC12.
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
• Epithelial cell signaling in Helicobacter pylori infection
Protein Summary
Mucin-12 is a transmembrane glycoprotein with a large extracellular domain rich in serine and threonine residues that undergo O-glycosylation. It contains a SEA domain and multiple EGF-like repeats, suggesting roles in cell adhesion and signaling. The protein is a component of the protective mucus layer on epithelial surfaces and is implicated in cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MUC12 Knockout HEK293 Cell Line | EDJ-KQ3011 | Human | 10071 | Details Get a Quote |
| MUC12 Knockout HeLa Cell Line | EDJ-KQ24214 | Human | 10071 | Details Get a Quote |
| MUC12 Knockout A-549 Cell Line | EDJ-KQ22845 | Human | 10071 | Details Get a Quote |
| MUC12 Knockout HCT 116 Cell Line | EDJ-KQ72251 | Human | 10071 | Details Get a Quote |
