Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1832
MIM: 125647
HGNC: 3052
Ensembl: ENSG00000096696
Variants:
dbSNP: 1832
ClinVar: 1832
TCGA: ENSG00000096696
COSMIC: DSP
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000096696 | ENST00000379802 | P15924 |
| ENSG00000096696 | ENST00000418664 | P15924 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA134871907 | TMEM43 | Gene | DataAnnotation | associated | |||
| PA27489 | DSC2 | Gene | DataAnnotation | associated | |||
| PA27502 | DSG2 | Gene | DataAnnotation | associated | |||
| PA33357 | PKP2 | Gene | DataAnnotation | associated | |||
| PA446847 | Arrhythmogenic Right Ventricular Dysplasia | Disease | DataAnnotation, Literature, MultilinkAnnotation | associated | 23788249 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38509711 | 2024 | Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP-mutated keratinocytes. | 1 |
| 38509711 | 2024 | Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP-mutated keratinocytes. | 1 |
| 36580316 | 2023 | Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant. | 7 |
| 36768812 | 2023 | DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort. | 6 |
| 36580316 | 2023 | Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant. | 7 |
| 36768812 | 2023 | DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort. | 6 |
| 35008956 | 2022 | Missense Mutations in Desmoplakin Plakin Repeat Domains Have Dramatic Effects on Domain Structure and Function. | 1 |
| 35348702 | 2022 | Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP. | 1 |
| 35445468 | 2022 | A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign. | 3 |
| 35470109 | 2022 | Clinical profile and long-term follow-up of a cohort of patients with desmoplakin cardiomyopathy. | 18 |
| 35816432 | 2022 | Colocalization of Gene Expression and DNA Methylation with Genetic Risk Variants Supports Functional Roles of MUC5B and DSP in Idiopathic Pulmonary Fibrosis. | 11 |
| 35008956 | 2022 | Missense Mutations in Desmoplakin Plakin Repeat Domains Have Dramatic Effects on Domain Structure and Function. | 1 |
| 35348702 | 2022 | Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP. | 1 |
| 35445468 | 2022 | A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign. | 3 |
| 35470109 | 2022 | Clinical profile and long-term follow-up of a cohort of patients with desmoplakin cardiomyopathy. | 18 |
Citation
Dessen P
DSP (desmoplakin)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/45936/dsp-(desmoplakin)
