MUC19 Gene - Mucin 19
A gel-forming mucin primarily expressed in salivary glands and respiratory tract
Gene Information Card
| Symbol | MUC19 |
|---|---|
| Full Name | Mucin 19, oligomeric mucus/gel-forming |
| Gene Type | Protein coding |
| Chromosomal Location | 12q12 |
| NCBI Gene ID | 283463 ncbi.nlm.nih.gov/gene/283463 |
| Ensembl ID | ENSG00000184990 |
| UniProt ID | Q7Z5P9 |
| OMIM ID | 610260 |
| HGNC ID | 14362 |
| Aliases | MUC19A, MUC19B, MG1 |
Description
MUC19 encodes a gel-forming mucin that is a major component of mucus. It is predominantly expressed in salivary glands, trachea, and other mucosal surfaces. The protein forms large oligomeric complexes via disulfide bonds and contributes to the viscoelastic properties of mucus, playing a role in protecting epithelial surfaces from pathogens and dehydration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sjögren's syndrome | Altered MUC19 expression may contribute to salivary gland dysfunction and dry mouth | PMID: 23528455 |
| Chronic obstructive pulmonary disease (COPD) | MUC19 overexpression in airway mucus contributes to mucus hypersecretion and airway obstruction | PMID: 21216973 |
| Cystic fibrosis | MUC19 is upregulated in CF airways, contributing to thick mucus | PMID: 19188300 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary gland | 45.2 | High |
| Trachea | 22.8 | Medium |
| Lung | 8.5 | Low |
| Stomach | 3.1 | Low |
| Colon | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HT-29 (colorectal adenocarcinoma) | 12.4 | Moderate expression |
| A549 (lung carcinoma) | 6.7 | Low expression |
| Calu-3 (lung adenocarcinoma) | 18.9 | Moderate expression |
| HPAEpiC (primary airway epithelial) | 25.3 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; associated with reduced mucin production |
| c.4567_4568insA (p.Thr1523Asnfs*5) | Frameshift | Rare | Loss of function; predicted to cause truncated protein |
| c.7890G>A (p.Trp2630*) | Nonsense | Rare | Loss of function; likely leads to nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in MUC19 are predicted to cause loss of function, leading to reduced mucin production and impaired mucus barrier.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MUC19.
Dominant Negative (DN)
No dominant-negative mutations have been described for MUC19.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • protein-containing complex (GO:0032991) |
| • extracellular space (GO:0005615) | • secretory granule (GO:0030141) |
| • structural molecule activity (GO:0005198) | • proteinaceous extracellular matrix (GO:0005578) |
Pathways
• Mucin-type O-glycan biosynthesis (KEGG:00512)
• Salivary secretion (KEGG:04970)
Protein Summary
Mucin-19 is a large, gel-forming glycoprotein that polymerizes via disulfide bonds to form a protective mucus layer. It is heavily O-glycosylated and contains tandem repeat domains rich in serine, threonine, and proline. The protein is essential for maintaining mucosal hydration and defense against microbial invasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MUC19 Knockout HEK293 Cell Line | EDJ-KQ12108 | Human | 283463 | Details Get a Quote |
