DSP (Desmoplakin) Gene
Key component of desmosomes, critical for cell-cell adhesion in cardiac and epithelial tissues
Gene Information Card
| Symbol | DSP |
|---|---|
| Full Name | Desmoplakin |
| Gene Type | Protein coding |
| Chromosomal Location | 6p24.3 |
| NCBI Gene ID | 1832 ncbi.nlm.nih.gov/gene/1832 |
| Ensembl ID | ENSG00000096696 |
| UniProt ID | P15924 |
| OMIM ID | 125647 |
| HGNC ID | 3052 |
| Aliases | DSPI, DSPII, KP, PPK, ARVD8, CDSN, CAR, DKFZp686P23128 |
Description
The DSP gene encodes desmoplakin, a critical component of desmosomes, which are intercellular junctions that provide mechanical strength to tissues. Desmoplakin links the desmosomal cadherins to the intermediate filament cytoskeleton, essential for maintaining tissue integrity in the heart and skin. Mutations in DSP cause arrhythmogenic right ventricular cardiomyopathy (ARVC) and various skin disorders, including palmoplantar keratoderma and skin fragility syndromes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Arrhythmogenic right ventricular cardiomyopathy (ARVC) | Disruption of desmosome integrity leads to myocyte detachment and fibrofatty replacement | ClinVar, OMIM |
| Dilated cardiomyopathy (DCM) | Impaired cell-cell adhesion in cardiac muscle causes progressive ventricular dilation | ClinVar, OMIM |
| Palmoplantar keratoderma (PPK) | Loss of desmoplakin function in keratinocytes leads to abnormal keratinization and skin thickening | OMIM, NCBI |
| Skin fragility-woolly hair syndrome | Defective desmosomes cause epidermal blistering and abnormal hair | OMIM, NCBI |
| Carvajal syndrome | Combination of ARVC, woolly hair, and palmoplantar keratoderma due to DSP mutations | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skin | 38.7 | High |
| Esophagus | 32.1 | High |
| Breast | 15.6 | Medium |
| Lung | 12.3 | Medium |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 62.5 | High expression |
| Keratinocytes (primary) | 55.8 | High expression |
| MCF7 (breast cancer) | 18.4 | Moderate expression |
| HeLa (cervical cancer) | 9.7 | Low expression |
| HepG2 (liver cancer) | 3.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.6310delA (p.Thr2104Glnfs*12) | Frameshift | Rare | Loss of function; associated with ARVC |
| c.478C>T (p.Arg160X) | Nonsense | Rare | Premature stop; causes skin fragility syndrome |
| c.1339G>A (p.Glu447Lys) | Missense | Rare | Dominant negative effect; linked to ARVC |
| c.419C>T (p.Ser140Phe) | Missense | Rare | Gain of function?; reported in palmoplantar keratoderma |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., c.6310delA, c.478C>T) lead to truncated or absent desmoplakin, impairing desmosome assembly and cell adhesion.
Gain of Function (GOF)
Not well established; some missense variants may alter protein interactions but evidence is limited.
Dominant Negative (DN)
Missense mutations (e.g., c.1339G>A) produce a defective protein that interferes with wild-type desmoplakin function, disrupting desmosome structure.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell junction organization (R-HSA-446728)
• Desmosome assembly (R-HSA-157858)
• Cell-cell communication (R-HSA-1500931)
• Arrhythmogenic right ventricular cardiomyopathy (KEGG hsa05412)
Protein Summary
Desmoplakin is a large (287 kDa) protein that forms the inner dense plaque of desmosomes. It contains an N-terminal plakin domain that binds to desmosomal cadherins (desmoglein, desmocollin) and a C-terminal tail that interacts with intermediate filaments (keratins in epithelial cells, desmin in cardiac muscle). Two major isoforms exist: DSPI (full-length) and DSPII (shorter, lacking part of the rod domain). The protein is essential for mechanical coupling between cells and tissue integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DSPP Knockout HEK293 Cell Line | EDJ-KQ4481 | Human | 1834 | Details Get a Quote |
| DSP Knockout HEK293 Cell Line | EDJ-KQ4482 | Human | 1832 | Details Get a Quote |
| CTDSP2 Knockout HEK293 Cell Line | EDJ-KQ6901 | Human | 10106 | Details Get a Quote |
| CTDSPL Knockout HEK293 Cell Line | EDJ-KQ6959 | Human | 10217 | Details Get a Quote |
| CTDSPL2 Knockout HEK293 Cell Line | EDJ-KQ11113 | Human | 51496 | Details Get a Quote |
| CTDSP1 Knockout HEK293 Cell Line | EDJ-KQ13048 | Human | 58190 | Details Get a Quote |
| DSP Knockout A-549 Cell Line | EDJ-KQ27055 | Human | 1832 | Details Get a Quote |
| DSP Knockout HCT 116 Cell Line | EDJ-KQ27056 | Human | 1832 | Details Get a Quote |
| DSP Knockout HeLa Cell Line | EDJ-KQ27057 | Human | 1832 | Details Get a Quote |
| CTDSP2 Knockout A-549 Cell Line | EDJ-KQ30146 | Human | 10106 | Details Get a Quote |
| CTDSPL2 Knockout A-549 Cell Line | EDJ-KQ39087 | Human | 51496 | Details Get a Quote |
| CTDSPL2 Knockout HCT 116 Cell Line | EDJ-KQ39088 | Human | 51496 | Details Get a Quote |
| CTDSPL2 Knockout HeLa Cell Line | EDJ-KQ39089 | Human | 51496 | Details Get a Quote |
| CTDSP1 Knockout HeLa Cell Line | EDJ-KQ41085 | Human | 58190 | Details Get a Quote |
| CTDSP2 Knockout HCT 116 Cell Line | EDJ-KQ31519 | Human | 10106 | Details Get a Quote |
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