dspa desmoplakin a [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: dspaprovided by ZNC
Official Full Name: desmoplakin aprovided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-2743
See related: Ensembl:ENSDARG00000022309 AllianceGenome:ZFIN:ZDB-GENE-030131-2743
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: sb:cb570; im:6911953; wu:fc17a08; wu:fk73d01
Summary: Predicted to enable structural molecule activity. Involved in desmosome organization; establishment of skin barrier; and heart development. Acts upstream of or within 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). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 2

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	2	NC_007113.7 (2110298..2163055)
105	previous assembly	GRCz10 (GCF_000002035.5)	2	NC_007113.6 (1767572..1819936)

Chromosome 2 - NC_007113.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of cardiac Wnt/beta-catenin signalling occurs in desmoplakin-deficient AC8 zebrafish.
Title: Loss of cardiac Wnt/β-catenin signalling in desmoplakin-deficient AC8 zebrafish models is rescuable by genetic and pharmacological intervention.

Submit: New GeneRIF Correction

General gene information

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Markers

fk73d01.x1 (e-PCR)
- UniSTS:201483

AI657752 (e-PCR)
- UniSTS:206096

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables structural molecule activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within camera-type eye development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within desmosome organization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in desmosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of skin barrier	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fin regeneration	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart contraction	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermediate filament cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intermediate filament cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in skin development	IBA Inferred from Biological aspect of Ancestor more info
involved_in wound healing	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in desmosome	IEA Inferred from Electronic Annotation more info
is_active_in intercalated disc	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with intermediate filament	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: desmoplakin-A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.