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
Predicted to enable cell adhesion molecule binding activity. Predicted to act upstream of or within cell-cell adhesion and intermediate filament cytoskeleton organization. Predicted to be located in cell junction; cytoplasm; and cytoskeleton. Is expressed in several structures, including epidermis; head; heart; otic vesicle; and solid lens vesicle. 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
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from Giuliodori et al., 2018
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With dspb Human Ortholog
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
Skin fragility-woolly hair syndrome 607655
Associated With dspb Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR041573 Desmoplakin, spectrin-like domain
Family IPR028462 Desmoplakin
Family IPR043197 Plakin
Homologous_superfamily IPR035915 Plakin repeat superfamily
Repeat IPR001101 Plectin repeat
Domain Details Per Protein
Protein Length Desmoplakin Desmoplakin, spectrin-like domain Plakin Plakin repeat superfamily Plectin repeat
UniProtKB:F1QAU9 2207
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations