DSG3 (Desmoglein 3) Gene: Structure, Function, and Clinical Significance
Comprehensive biomedical overview of the DSG3 gene, encoding desmoglein 3, a cadherin family member critical for desmosome adhesion in epithelial tissues.
Gene Information Card
| Symbol | DSG3 |
|---|---|
| Full Name | Desmoglein 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q12.1 |
| NCBI Gene ID | 1830 ncbi.nlm.nih.gov/gene/1830 |
| Ensembl ID | ENSG00000134757 |
| UniProt ID | P32926 |
| OMIM ID | 169615 |
| HGNC ID | 3049 |
| Aliases | CDHF6, DG3, DSG, PVA |
Description
DSG3 (desmoglein 3) is a protein-coding gene located on chromosome 18q12.1. It encodes a calcium-binding transmembrane glycoprotein belonging to the desmoglein subfamily of cadherins. Desmoglein 3 is a core component of desmosomes, intercellular junctions that provide mechanical strength to epithelial tissues. The protein is primarily expressed in stratified squamous epithelia, including skin and oral mucosa. DSG3 is a target of autoantibodies in pemphigus vulgaris, an autoimmune blistering disease. Mutations and altered expression of DSG3 have also been implicated in cancer progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pemphigus vulgaris | Autoantibodies against DSG3 disrupt desmosome adhesion, leading to acantholysis and blister formation in skin and mucous membranes. | ClinVar, OMIM |
| Pemphigus foliaceus | Autoantibodies primarily target DSG1, but DSG3 may be involved in some cases. | OMIM |
| Oral squamous cell carcinoma | DSG3 overexpression is associated with tumor invasion and poor prognosis. | COSMIC, NCBI Gene |
| Breast cancer | DSG3 downregulation correlates with epithelial-mesenchymal transition and metastasis. | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 58.2 | High |
| Oral mucosa | 45.1 | High |
| Esophagus | 32.7 | Medium |
| Tongue | 28.4 | Medium |
| Cervix | 15.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 62.5 | High expression |
| A431 (epidermoid carcinoma) | 55.0 | High expression |
| SCC-25 (oral squamous cell carcinoma) | 48.3 | High expression |
| MCF-7 (breast cancer) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1250G>A (p.Arg417His) | Missense | Rare | Alters cadherin domain, possibly affecting adhesion |
| c.2023C>T (p.Arg675Cys) | Missense | Rare | Located in extracellular domain, potential impact on autoantibody binding |
| c.2860_2861del (p.Leu954fs) | Frameshift | Very rare | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu954fs) lead to truncated protein and loss of adhesive function.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in DSG3.
Dominant Negative (DN)
Missense mutations in the extracellular domain may interfere with desmosome assembly, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • cell adhesion |
| • desmosome organization | • homophilic cell adhesion via plasma membrane adhesion molecules |
| • keratinocyte differentiation | • cell-cell junction assembly |
Pathways
• Cell adhesion molecules (CAMs)
• Desmosome assembly
• Keratinocyte differentiation
• Pemphigus vulgaris signaling
Protein Summary
Desmoglein 3 is a 999-amino-acid transmembrane glycoprotein with an extracellular domain containing four cadherin repeats and a calcium-binding site, a single transmembrane domain, and a cytoplasmic tail that interacts with plakoglobin and desmoplakin to anchor intermediate filaments. It is essential for maintaining structural integrity in stratified epithelia. Autoantibodies targeting DSG3 cause pemphigus vulgaris, while altered expression is linked to cancer invasion and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DSG3 Knockout HEK293 Cell Line | EDJ-KQ3365 | Human | 1830 | Details Get a Quote |
| DSG3 Knockout HeLa Cell Line | EDJ-KQ53123 | Human | 1830 | Details Get a Quote |
| DSG3 Knockout A-549 Cell Line | EDJ-KQ61595 | Human | 1830 | Details Get a Quote |
| DSG3 Knockout HCT 116 Cell Line | EDJ-KQ70085 | Human | 1830 | Details Get a Quote |
