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. Predicted to be involved in several processes, including intermediate filament cytoskeleton organization; skin development; and wound healing. Predicted to be located in cell junction and cytoskeleton. 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
Expression
All Expression Data
13 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
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 dspa 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 dspa 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
Domain IPR041615 Desmoplakin, SH3 domain
Family IPR028462 Desmoplakin
Family IPR043197 Plakin
Homologous_superfamily IPR035915 Plakin repeat superfamily
Repeat IPR001101 Plectin repeat
Repeat IPR018159 Spectrin/alpha-actinin
Domain Details Per Protein
Protein Length Desmoplakin Desmoplakin, SH3 domain Desmoplakin, spectrin-like domain Plakin Plakin repeat superfamily Plectin repeat Spectrin/alpha-actinin
UniProtKB:Q5CZW1 573
UniProtKB:F8W4Q1 2059
Transcripts
Genome Browsers
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