Identity
HGNC
LOCATION
19q13.32
LOCUSID
ALIAS
DM,DM1,DM1PK,DMK,MDPK,MT-PK
FUSION GENES
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: 1760
MIM: 605377
HGNC: 2933
Ensembl: ENSG00000104936
Variants:
dbSNP: 1760
ClinVar: 1760
TCGA: ENSG00000104936
COSMIC: DMPK
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Muscle contraction | REACTOME | R-HSA-397014 |
| Cardiac conduction | REACTOME | R-HSA-5576891 |
| Ion homeostasis | REACTOME | R-HSA-5578775 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36883684 | 2023 | Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report. | 0 |
| 36883684 | 2023 | Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report. | 0 |
| 34776509 | 2022 | DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients. | 4 |
| 35054778 | 2022 | DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis and Synaptic Plasticity in Association with RNA Foci and Mis-Splicing in the Hippocampus. | 4 |
| 35741732 | 2022 | High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1. | 9 |
| 34776509 | 2022 | DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients. | 4 |
| 35054778 | 2022 | DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis and Synaptic Plasticity in Association with RNA Foci and Mis-Splicing in the Hippocampus. | 4 |
| 35741732 | 2022 | High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1. | 9 |
| 33497365 | 2021 | Reversible cardiac disease features in an inducible CUG repeat RNA-expressing mouse model of myotonic dystrophy. | 9 |
| 33497365 | 2021 | Reversible cardiac disease features in an inducible CUG repeat RNA-expressing mouse model of myotonic dystrophy. | 9 |
| 31608518 | 2020 | A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype. | 14 |
| 31936870 | 2020 | DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies. | 15 |
| 33301350 | 2020 | DNA methylation at the DMPK gene locus is associated with cognitive functions in myotonic dystrophy type 1. | 10 |
| 31608518 | 2020 | A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype. | 14 |
| 31936870 | 2020 | DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies. | 15 |
Citation
Dessen P
DMPK (DM1 protein kinase)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/40339/dmpk-(dm1-protein-kinase)
