DSP
Chr 6ADARdesmoplakin
The desmoplakin protein anchors intermediate filaments to desmosomal plaques and is essential for cell-cell adhesion in desmosomes. Mutations cause a spectrum of cardiomyopathies (including arrhythmogenic right ventricular dysplasia and dilated cardiomyopathy) often combined with skin abnormalities such as keratoderma, woolly hair, and in severe cases lethal acantholytic epidermolysis bullosa. The gene shows both autosomal dominant and autosomal recessive inheritance patterns and is highly constrained against loss-of-function variants.
Disputed — evidence questions this relationship
2 total gene-disease associations curated
Some data sources returned errors (1)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The Badonyi & Marsh model scores gain-of-function highest, but genomic evidence most strongly supports loss-of-function (haploinsufficiency) as the primary mechanism.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DSP · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Tissue and Metabolic Characterization of Arrhythmogenic Cardiomyopathies by Hybrid PET-MRI Imaging, Impact of the Observed Profiles on the Phenotype and on the Evolution of Cardiomyopathy
RECRUITINGRadiation Therapy Followed by Durvalumab (MEDI4736) and Tremelimumab And Surgery Versus Radiation Therapy Followed by Surgery for Resectable Hepatocellular Carcinoma.
NOT YET RECRUITINGPBI-MST-01 (NCT04541108) Substudy AZN-05: Intratumoral Microdosing of Rilvegostomig, Volrustomig, Sabestomig, and AZD9592 in HNSCC
RECRUITINGDHF-20-1839-2: Clinical Performance Study Protocol for Therascreen® KRAS RGQ PCR Kit
RECRUITINGTesting Different Amounts of the Combination of Drugs M1774 and ZEN-3694 for the Treatment of Recurrent Ovarian and Endometrial Cancer
RECRUITINGSUV PDL1/PD1 in Sun Damaged & Sun Protected Human Skin of Participants
RECRUITINGBiomarkers in SCOTland CardiomyopatHy Registry (Bio-SCOTCH)
RECRUITINGExternal Resources
Links to major genomics databases and tools