DMPK (DM1 protein kinase)

2003-11-01  

Identity

HGNC
DMPK
LOCATION
19q13.32
LOCUSID
1760
ALIAS
DM,DM1,DM1PK,DMK,MDPK,MT-PK
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1760
MIM: 605377
HGNC: 2933
Ensembl: ENSG00000104936

Variants:

dbSNP: 1760
ClinVar: 1760
TCGA: ENSG00000104936
COSMIC: DMPK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104936ENST00000291270Q09013
ENSG00000104936ENST00000291270E5KR06
ENSG00000104936ENST00000343373Q09013
ENSG00000104936ENST00000354227Q09013
ENSG00000104936ENST00000447742Q09013
ENSG00000104936ENST00000447742E5KR07
ENSG00000104936ENST00000458663Q09013
ENSG00000104936ENST00000458663E5KR05
ENSG00000104936ENST00000588522K7EQX1
ENSG00000104936ENST00000593574M0QXJ9
ENSG00000104936ENST00000597660M0R1F3
ENSG00000104936ENST00000618091Q09013
ENSG00000104936ENST00000618091E5KR05

Expression (GTEx)

0
50
100
150
200
250
300
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
368836842023Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report.0
368836842023Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report.0
347765092022DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients.4
350547782022DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis and Synaptic Plasticity in Association with RNA Foci and Mis-Splicing in the Hippocampus.4
357417322022High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1.9
347765092022DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients.4
350547782022DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis and Synaptic Plasticity in Association with RNA Foci and Mis-Splicing in the Hippocampus.4
357417322022High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1.9
334973652021Reversible cardiac disease features in an inducible CUG repeat RNA-expressing mouse model of myotonic dystrophy.9
334973652021Reversible cardiac disease features in an inducible CUG repeat RNA-expressing mouse model of myotonic dystrophy.9
316085182020A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.14
319368702020DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies.15
333013502020DNA methylation at the DMPK gene locus is associated with cognitive functions in myotonic dystrophy type 1.10
316085182020A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.14
319368702020DM1 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