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
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
4 figures from 2 publications
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
1 - 5 of 5
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 IPR043197 Plakin
Homologous_superfamily IPR035915 Plakin repeat superfamily
Repeat IPR001101 Plectin repeat
1 - 4 of 4
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
1 - 3 of 3
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA dspb-201 (1) Ensembl 6,624 nt
1 - 1 of 1
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