DMPK Gene

Name	dystrophia myotonica-protein kinase
Description	The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-38 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2016]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Dystrophia myotonica protein kinase (DMPK) is a serine/threonine kinase with a pivotal role in muscle homeostasis that extends to the regulation of cytoskeletal dynamics, ion‐homeostasis, and stress‐responsive signaling. In normal tissues, alternative splicing of the DMPK transcript produces isoforms with distinct biochemical properties and subcellular localizations—for example, one major isoform localizes to the outer mitochondrial membrane, where its kinase activity supports antioxidant and pro‐survival functions through complexes involving hexokinase II and Src (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In contrast, in myotonic dystrophy type 1 (DM1) the mutation—an expanded CTG repeat in the 3′ untranslated region of DMPK—leads to production of toxic RNA species that accumulate in nuclear foci and sequester critical splicing regulators. This RNA‐mediated toxicity disrupts alternative splicing events that are essential for proper myogenesis and cardiac function, thereby contributing to muscle degeneration and conduction defects (see."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "5"}]}, {"type": "t", "text": " Moreover, studies in transgenic mouse models indicate that disturbed DMPK expression—whether by improper dosage from mutant alleles or by overexpression—can lead to cardiomyopathic remodeling and defects in skeletal muscle performance; yet, complete or even substantial knockdown in mature tissues may be tolerated without overt functional compromise, underscoring the finely tuned balance required for DMPK’s cellular roles (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Together, these findings demonstrate that precise regulation of DMPK expression and isoform distribution is crucial for maintaining the structural integrity and proper signaling in muscle and cardiac tissues. Disruption of these processes—either by toxic gain‐of–function of mutant DMPK RNA in DM1 or by imbalances in DMPK protein levels—can lead to the multisystemic manifestations of the disease.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "B Pantic, E Trevisan, A Citta, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Myotonic dystrophy protein kinase (DMPK) prevents ROS-induced cell death by assembling a hexokinase II-Src complex on the mitochondrial surface."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Death Dis (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/cddis.2013.385"}], "href": "https://doi.org/10.1038/cddis.2013.385"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24136222"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24136222"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Derick G Wansink, René E M A van Herpen, Marga M Coerwinkel-Driessen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Alternative splicing controls myotonic dystrophy protein kinase structure, enzymatic activity, and subcellular localization."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.23.16.5489-5501.2003"}], "href": "https://doi.org/10.1128/MCB.23.16.5489-5501.2003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12897125"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12897125"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Walther J A A van den Broek, Marcel R Nelen, Derick G Wansink, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/11.2.191"}], "href": "https://doi.org/10.1093/hmg/11.2.191"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11809728"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11809728"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Guey-Shin Wang, Debra L Kearney, Mariella De Biasi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI32308"}], "href": "https://doi.org/10.1172/JCI32308"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17823658"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17823658"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Jeffrey D Amack, Shannon R Reagan, Mani S Mahadevan "}, {"type": "b", "children": [{"type": "t", "text": "Mutant DMPK 3'-UTR transcripts disrupt C2C12 myogenic differentiation by compromising MyoD."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.200206020"}], "href": "https://doi.org/10.1083/jcb.200206020"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12427866"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12427866"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "D Fearghas O'Cochlain, Carmen Perez-Terzic, Santiago Reyes, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transgenic overexpression of human DMPK accumulates into hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddh266"}], "href": "https://doi.org/10.1093/hmg/ddh266"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15317754"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15317754"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Samuel T Carrell, Ellie M Carrell, David Auerbach, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddw266"}], "href": "https://doi.org/10.1093/hmg/ddw266"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27522499"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27522499"}]}]}]}
Synonyms	DM1PK, DMK, MT-PK, MDPK, DM, DM1
Proteins	DMPK_HUMAN
NCBI Gene ID	1760
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

DMPK has 6,962 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 125 datasets.

Click the + buttons to view associations for DMPK from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

DMPK Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of DMPK gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of DMPK gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of DMPK gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of DMPK gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of DMPK gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of DMPK gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of DMPK gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of DMPK gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of DMPK gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of DMPK gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of DMPK gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with DMPK gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with DMPK gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of DMPK gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of DMPK gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of DMPK gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with DMPK gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of DMPK gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of DMPK gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing DMPK protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing DMPK protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing DMPK protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing DMPK protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with DMPK protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with DMPK protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of DMPK gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with DMPK gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with DMPK gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with DMPK gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by DMPK gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DGIdb Drug Targets 2026	interacting drugs for DMPK protein from the DGIdb Drug Targets 2026 dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving DMPK gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving DMPK gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with DMPK gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with DMPK gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with DMPK gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with DMPK gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with DMPK gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for DMPK protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at DMPK gene from the ENCODE Histone Modification Site Profiles dataset.