DSP gene homepage

General information
Gene symbol DSP
Gene name desmoplakin
Chromosome 6
Chromosomal band pter-p21
Imprinted Unknown
Genomic reference NG_008803.1
Transcript reference NM_004415.2
Exon/intron information NM_004415.2 exon/intron table
Associated with diseases ARVD-8, DCWHK, DCWHKTA, EBLA, PPKS-2, SFWHS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Paul van der Zwaag
Total number of public variants reported 1082
Unique public DNA variants reported 632
Individuals with public variants 347
Hidden variants 30
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created January 23, 2009
Date last updated July 17, 2019
Version DSP:190717

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_004415.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/DSP
External URL Orphanet
ARVD/C genetic variants database
HGNC 3052
Entrez Gene 1832
PubMed articles DSP
OMIM - Gene 125647
OMIM - Diseases ARVD-8 (dysplasia, ventricular, right, arrhythmogenic, type 8 (ARVD-8))
DCWHK (cardiomyopathy, dilated with woolly hair and keratoderma (DCWHK, Carvajal syndrome))
DCWHKTA (cardiomyopathy, dilated with woolly hair, keratoderma, and tooth agenesis (DCWHKTA))
EBLA (epidermolysis bullosa, lethal acantholytic (EBLA))
PPKS-2 (keratosis palmoplantaris striata, type 2 (PPKS-2))
SFWHS (skin fragility, woolly hair syndrome (SFWHS))
GeneCards DSP
GeneTests DSP

Active transcripts




NCBI ID     

NCBI Protein ID     

00006721 6 transcript variant 1 NM_004415.2 NP_004406.2 1082

Copyright & disclaimer
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