Gene
dspb
- ID
- ZDB-GENE-030131-1662
- Name
- desmoplakin b
- Symbol
- dspb Nomenclature History
- Previous Names
-
- fi04e12
- wu:fb77d08
- wu:fi04e12
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- 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 epidermis; head; heart; otic vesicle; and solid lens vesicle. Orthologous to human DSP (desmoplakin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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, spectrin-like domain | Plakin | Plakin repeat superfamily | Plectin repeat |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PQ61
|
2207 | ||||
|
UniProtKB:A0A8M9P346
|
1764 | ||||
|
UniProtKB:A0A9F4KUS3
|
2207 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available