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

Expression

All Expression Data

13 figures from 3 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb570 (10 images)
IMAGE:6911953 (6 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 4 figures from 2 publications
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

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	IPR043197	Plakin
Homologous_superfamily	IPR035915	Plakin repeat superfamily
Repeat	IPR001101	Plectin repeat
Repeat	IPR018159	Spectrin/alpha-actinin