gene

DMPK

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about DMPK: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

172Connections

0Hypotheses

1Analyses

50Outgoing

50Incoming

Summary

DMPK encodes a serine/threonine protein kinase primarily expressed in muscle and heart, with trinucleotide repeat expansions causing myotonic dystrophy type 1 and associated cognitive/neurodegenerative phenotypes.

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🧬 Gene Info

Gene Symbol	DMPK
Full Name	Dystrophia Myotonica Protein Kinase
Chromosome	19q13.32
Protein Type	Kinase
Function	encodes a member of the serine/threonine protein kinase family, primarily expressed in cardiac muscle, skeletal muscle, and the central nervous system.
Primary Expression	cardiac muscle, skeletal muscle, and the central nervous system
Amino Acids	725 aa
Exons	15
Pathways	MAPK signaling, Mapk, autophagy pathway, insulin signaling
UniProt ID	Q09013
NCBI Gene ID	1740
Ensembl ID	ENSG00000104936
OMIM	168600
GeneCards	DMPK
Human Protein Atlas	DMPK
Associated Diseases	ALS, Amyotrophic Lateral Sclerosis, Cognitive deficits, Myotonic Dystrophy Type 1, Neurodegeneration
Known Drugs/Compounds	CRISPR/Cas therapy
Interactions	DMPK-CUG, MBNL1, HTT, repeat-containing transcripts, BDNF, MBNL2
KG Connections	172 knowledge graph edges
Databases	GeneCards HPA STRING

🔮 Predicted Structure: DMPK — AlphaFold Q09013 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (21)

Knowledge base pages for this entity

Canonical Page

Pathway Diagram

graph TD
    DMPK["DMPK"]
    Myotonic_Dystrophy_Type_1{"Myotonic Dystrophy Type 1"}
    DMPK -->|"causes"| Myotonic_Dystrophy_Type_1
    DMPK_CUG("DMPK-CUG")
    DMPK -->|"interacts_with"| DMPK_CUG
    Brain_atrophy{"Brain atrophy"}
    DMPK -->|"contributes_to"| Brain_atrophy
    MBNL1("MBNL1")
    DMPK -->|"interacts_with"| MBNL1
    Neurofibrillary_tangles{"Neurofibrillary tangles"}
    DMPK -->|"associated_with"| Neurofibrillary_tangles
    Neuromuscular_disorder{"Neuromuscular disorder"}
    DMPK -->|"causes"| Neuromuscular_disorder
    Skeletal_muscle["Skeletal muscle"]
    DMPK -->|"expressed_in"| Skeletal_muscle
    Cognitive_deficits{"Cognitive deficits"}
    DMPK -->|"associated_with"| Cognitive_deficits
    CRISPR_Cas_therapy["/"CRISPR/Cas therapy"/"]
    DMPK -->|"therapeutic_target"| CRISPR_Cas_therapy
    synaptic_plasticity_genes["synaptic plasticity genes"]
    DMPK -->|"co_discussed"| synaptic_plasticity_genes
    CREB1["CREB1"]
    DMPK -->|"co_discussed"| CREB1
    HMGCR["HMGCR"]
    DMPK -->|"co_discussed"| HMGCR
    mitochondrial_biogenesis_genes["mitochondrial biogenesis genes"]
    DMPK -->|"co_discussed"| mitochondrial_biogenesis_genes
    Disease_causing_mutations_with_integrated_reporters["Disease-causing mutations with integrated reporters"]
    DMPK -->|"co_discussed"| Disease_causing_mutations_with_integrated_reporters
    Cell_type_specific_essential_genes["Cell-type-specific essential genes"]
    Cell_type_specific_essential_genes -->|"co_discussed"| DMPK

Outgoing (122)

Target	Relation	Type	Str
neural stem cells	associated_with	cell_type	0.70
Amyotrophic Lateral Sclerosis	associated_with	disease	0.65
Als	associated_with	disease	0.65
Tauopathy	associated_with	disease	0.65
Neurodegeneration	associated_with	disease	0.65
Als	therapeutic_target	disease	0.65
Als	inhibits	disease	0.65
Neurodegeneration	expressed_in	disease	0.65
ALS	associated_with	disease	0.65
ALS	transports	disease	0.65
ALS	inhibits	disease	0.65
ALS	causes	disease	0.65
ALS	expressed_in	disease	0.65
Als	transports	disease	0.65
Myotonic Dystrophy Type 1	causes	disease	0.60
DMPK-CUG	interacts_with	protein	0.60
Brain atrophy	contributes_to	disease	0.60
MBNL1	interacts_with	protein	0.60
Neurofibrillary tangles	associated_with	disease	0.60
Neuromuscular disorder	causes	disease	0.60
Skeletal muscle	expressed_in	cell_type	0.60
Cognitive deficits	associated_with	disease	0.60
CRISPR/Cas therapy	therapeutic_target	drug	0.60
TAU	associated_with	gene	0.60
RAN	associated_with	gene	0.60
GAIN	causes	gene	0.60
GAIN	associated_with	gene	0.60
BDNF	inhibits	gene	0.60
GAIN	encodes	gene	0.60
MBNL2	interacts_with	gene	0.60
MBNL1	expressed_in	gene	0.60
MBNL2	expressed_in	gene	0.60
NPC1	associated_with	gene	0.60
NPC2	associated_with	gene	0.60
GFAP	activates	gene	0.60
HIF1A	activates	gene	0.60
HMGCR	activates	gene	0.60
LAMP1	activates	gene	0.60
LC3	activates	gene	0.60
MAP1LC3B	activates	gene	0.60
PIK3C3	activates	gene	0.60
PLP1	activates	gene	0.60
PRKDC	activates	gene	0.60
SLC17A6	activates	gene	0.60
SQSTM1	activates	gene	0.60
TRPM2	activates	gene	0.60
ULK1	activates	gene	0.60
Neuron	associated_with	cell_type	0.60
Astrocyte	associated_with	cell_type	0.60
NEURODEGENERATIVE DISEASES	associated_with	gene	0.60

Incoming (50)

Source	Relation	Type	Str
h-3a4f2027	targets_gene	hypothesis	0.90
GAIN	associated_with	gene	0.60
BDNF	inhibits	gene	0.60
MBNL1	interacts_with	gene	0.60
MBNL2	interacts_with	gene	0.60
CNBP	associated_with	gene	0.60
RAN	associated_with	gene	0.60
MBNL1	inhibits	gene	0.60
GAIN	expressed_in	gene	0.60
ATG5	activates	gene	0.60
BECN1	activates	gene	0.60
CAMK2	activates	gene	0.60
CASP3	activates	gene	0.60
TAUOPATHY	associated_with	gene	0.60
ZNF9/CNBP	associated_with	gene	0.60
RNA	associated_with	gene	0.60
RNA	therapeutic_target	gene	0.60
RNA	expressed_in	gene	0.60
ASTROCYTES	associated_with	gene	0.60
NEURODEGENERATION	associated_with	gene	0.60
GENES	associated_with	gene	0.60
AMYOTROPHIC LATERAL SCLEROSIS	associated_with	gene	0.60
AND	associated_with	gene	0.60
AND	transports	gene	0.60
RNA	causes	gene	0.60
AND	regulates	gene	0.60
AND	expressed_in	gene	0.60
NEURODEGENERATION	expressed_in	gene	0.60
RNA	phosphorylates	gene	0.60
AND	activates	gene	0.60
AMPK	activates	gene	0.60
CLCN1	causes	gene	0.55
HTT	interacts_with	gene	0.54
repeat-containing transcripts	interacts_with	gene	0.54
BDNF	co_expressed_with	gene	0.50
MAPK	activates	gene	0.50
Cell-type-specific essential genes	co_discussed	gene	0.40
APOE regulatory regions	co_discussed	gene	0.40
NURR1	co_discussed	gene	0.40
FOXO3	co_discussed	gene	0.40
PGC1A	co_discussed	gene	0.40
BDNF	co_discussed	gene	0.40
LDLR	co_discussed	gene	0.40
HTT	co_discussed	gene	0.40
SIRT1	co_discussed	gene	0.40
APOE	co_discussed	gene	0.40
repeat-containing transcripts	co_discussed	gene	0.40
PITX3	co_discussed	gene	0.40
neuronal identity transcription factors	co_discussed	gene	0.40
PABPN1 Protein	references	protein	0.40

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (1)

Scientific analyses that reference this entity

CRISPR-based therapeutic approaches for neurodegenerative diseases

neurodegeneration | 2026-04-03 | 14 hypotheses Top: 0.622

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

DMPK

Understanding Entity Pages

Summary

Wiki Pages (21)

DMPK Gene (Dystrophia Myotonica Protein Kinase)

nfl-blood-test-guided-therapy

Trinucleotide Repeat Expansion Disorders

Spinocerebellar Ataxia Type 8

HTT (Huntingtin)

RAN Translation in Neurodegeneration

APP Protein

mbnl1

risdiplam

APP — Amyloid Precursor Protein

Myotonic Dystrophy

Neumora Therapeutics

NeuBase Therapeutics

CNBP — Cellular Nucleic Acid Binding Protein

MBNL2 Gene

FUS-Targeting Therapies for Amyotrophic Lateral Sclerosis

ATP13A2 (PARK9) Targeting for Parkinson's Disease

Section 201: Advanced Mitochondrial Biogenesis and PGC-1α Targeting in CBS/PSP

apoe-genotype-guided-prevention

TREM2-Targeting Therapies