Gene
dspa
- ID
- ZDB-GENE-030131-2743
- Name
- desmoplakin a
- Symbol
- dspa Nomenclature History
- Previous Names
-
- im:6911953
- sb:cb570
- wu:fc17a08
- wu:fk73d01 (1)
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable structural molecule activity. Involved in desmosome organization; establishment of skin barrier; and heart development. Acts upstream of or within camera-type eye development; fin regeneration; and heart contraction. Predicted to be located in cytoskeleton; desmosome; and membrane. Predicted to be active in cytoplasm; intercalated disc; and plasma membrane. Predicted to colocalize with intermediate filament. Is expressed in several structures, including EVL; digestive system; ectoderm; epidermis; and pectoral fin. Human ortholog(s) of this gene implicated in Carvajal syndrome; arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 8; dilated cardiomyopathy; and keratosis palmoplantaris striata 2. Orthologous to human DSP (desmoplakin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb570 (10 images)
- IMAGE:6911953 (6 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| arrhythmogenic right ventricular dysplasia 8 | Alliance | Arrhythmogenic right ventricular dysplasia 8 | 607450 |
| Carvajal syndrome | Alliance | Cardiomyopathy, dilated, with woolly hair and keratoderma | 605676 |
| keratosis palmoplantaris striata 2 | Alliance | Keratosis palmoplantaris striata II | 612908 |
| Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis | 615821 | ||
| Epidermolysis bullosa, lethal acantholytic | 609638 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Desmoplakin, SH3 domain | Desmoplakin, spectrin-like domain | Plakin | Plakin repeat superfamily | Plectin repeat | Spectrin/alpha-actinin |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2BID5 | InterPro | 2059 | ||||||
| UniProtKB:A0AB13A959 | InterPro | 2059 | ||||||
| UniProtKB:A0AB13A9N6 | InterPro | 2502 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available