DSC3 Gene - Desmocollin 3
Essential component of desmosomes in epithelial tissues
Gene Information Card
| Symbol | DSC3 |
|---|---|
| Full Name | Desmocollin 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 18q12.1 |
| NCBI Gene ID | 1825 ncbi.nlm.nih.gov/gene/1825 |
| Ensembl ID | ENSG00000134762 |
| UniProt ID | Q14574 |
| OMIM ID | 600271 |
| HGNC ID | 3037 |
| Aliases | CDHF3, DSC, DSC1, DSC2, HT-CP |
Description
DSC3 (Desmocollin 3) is a member of the desmocollin subfamily of cadherins, calcium-dependent cell adhesion proteins. It is a core component of desmosomes, intercellular junctions that provide mechanical strength to tissues, particularly in the skin and heart. DSC3 is expressed in stratified squamous epithelia and is critical for maintaining tissue integrity. Mutations in DSC3 are associated with skin fragility disorders and cardiomyopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Arrhythmogenic right ventricular cardiomyopathy (ARVC) | Loss of desmosomal integrity leads to myocyte detachment and fibrofatty replacement | ClinVar, OMIM |
| Skin fragility-woolly hair syndrome | Disruption of desmosome assembly in epidermis and hair follicles | OMIM |
| Lethal acantholytic epidermolysis bullosa | Severe loss of cell adhesion in skin due to DSC3 deficiency | OMIM |
| Esophageal squamous cell carcinoma | Altered DSC3 expression may contribute to tumor invasion and metastasis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 45.2 | High |
| Esophagus | 38.7 | High |
| Oral mucosa | 32.1 | High |
| Heart | 5.3 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 62.4 | High expression in keratinocytes |
| A431 (epidermoid carcinoma) | 55.1 | High expression |
| MCF7 (breast cancer) | 12.3 | Moderate expression |
| HeLa (cervical cancer) | 8.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2024G>A (p.Arg675Gln) | Missense | Rare | Impaired desmosome assembly; associated with ARVC |
| c.1129C>T (p.Arg377Ter) | Nonsense | Rare | Premature truncation; loss of function in skin fragility |
| c.1663_1664del (p.Leu555ValfsTer12) | Frameshift | Rare | Loss of function; linked to lethal acantholytic epidermolysis bullosa |
| c.2450T>C (p.Leu817Pro) | Missense | Rare | Dominant negative effect; associated with woolly hair and skin fragility |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg377Ter, p.Leu555ValfsTer12) lead to truncated or absent protein, causing severe skin adhesion defects.
Gain of Function (GOF)
Not reported for DSC3.
Dominant Negative (DN)
Missense mutations such as p.Leu817Pro interfere with desmosome assembly, exerting a dominant negative effect in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) | • cell-cell junction (GO:0005913) |
| • desmosome (GO:0030057) | • calcium ion binding (GO:0005509) |
| • plasma membrane (GO:0005886) |
Pathways
• Cell adhesion molecules (CAMs) – KEGG hsa04514
• Desmosome assembly – Reactome R-HSA-157858
• Arrhythmogenic right ventricular cardiomyopathy – KEGG hsa05412
Protein Summary
Desmocollin 3 is a 901-amino acid transmembrane glycoprotein belonging to the cadherin superfamily. It contains four extracellular cadherin repeats, a transmembrane domain, and a cytoplasmic tail that interacts with plakoglobin and desmoplakin to anchor intermediate filaments. DSC3 is essential for strong cell-cell adhesion in stratified epithelia and cardiac muscle. Alternative splicing generates multiple isoforms with tissue-specific expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DSC3 Knockout HEK293 Cell Line | EDJ-KQ2612 | Human | 1825 | Details Get a Quote |
| DSC3 Knockout A-549 Cell Line | EDJ-KQ23331 | Human | 1825 | Details Get a Quote |
| DSC3 Knockout HCT 116 Cell Line | EDJ-KQ23332 | Human | 1825 | Details Get a Quote |
| DSC3 Knockout HeLa Cell Line | EDJ-KQ23333 | Human | 1825 | Details Get a Quote |
