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 have structural molecule activity. Predicted to be involved in several processes, including intermediate filament cytoskeleton organization; skin development; and wound healing. Predicted to colocalize with intermediate filament. Human ortholog(s) of this gene implicated in Carvajal syndrome; arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 8; and dilated cardiomyopathy. Is expressed in several structures, including EVL; digestive system; ectoderm; epidermis; and pectoral fin. 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
- All Phenotype Data
- 3 figures from Giuliodori et al., 2018
- Cross-Species Comparison
- Alliance
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 | Length | Desmoplakin, SH3 domain | Desmoplakin, spectrin-like domain | Plakin | Plakin repeat superfamily | Plectin repeat | Spectrin/alpha-actinin |
---|---|---|---|---|---|---|---|
UniProtKB:A0A8M2BID5
|
2059 | ||||||
UniProtKB:A0A8M1QL44
|
2502 |
Interactions and Pathways
No data available
Plasmids
No data available