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. Involved in desmosome organization; establishment of skin barrier; and heart development. Acts upstream of or within camera-type eye development; fin regeneration; and heart contraction. Predicted to be located in cytoskeleton; desmosome; and membrane. 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
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
1 - 5 of 5
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
1 - 5 of 6 Show all
Domain Details Per Protein
Protein Additional Resources Length Desmoplakin, SH3 domain Desmoplakin, spectrin-like domain Plakin Plakin repeat superfamily Plectin repeat Spectrin/alpha-actinin
UniProtKB:A0A8M2BID5 InterPro 2059
UniProtKB:A0AB13A959 InterPro 2059
UniProtKB:A0AB13A9N6 InterPro 2502
1 - 3 of 3
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA dspa-201 (1)
Ensembl
Ensembl 7,020 nt
ZFIN BLAST
ncRNA dspa-002 (1)
Ensembl
Ensembl 1,221 nt
ZFIN BLAST
1 - 2 of 2
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
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