Gene
DMPK
DM1 protein kinase
- HGNC 2933↗(opens in a new tab)
- Ensembl gene ENSG00000104936↗(opens in a new tab)
- NCBI Gene 1760↗(opens in a new tab)
Summary
- Cytogenetic location
- 19q13.32
- Coordinates
- Chromosome 19: 45,769,717–45,782,490 (GRCh38)
- Exons
- 15 exons across 12.8 kb
- Protein
- 629 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- DMK, DM1PK, MDPK, MT-PK
- Previous symbols
- DM1, DM
- MANE Select transcript
- ENST00000291270.9NM_004409.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Myotonic Dystrophy
- Autosomal dominant
An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Mexiletine for myotonia; cardiac pacemaker/ICD for conduction disease; non-invasive ventilation for respiratory insufficiency; annual cardiac and pulmonary monitoring; avoidance of certain anesthetic agents
Broader groupings
Hypertrophic Cardiomyopathy
- Autosomal dominant
One of 62 genes linked to it
A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How DMPK is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.8 kb of the gene's 12.8 kb; 1,890 of those bases code for the protein.
How a genome test reads DMPK
1
position in DMPK where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 12.8 kb of DMPK, introns included, not only the 2.8 kb of exons.
Genes linked to the same conditions
- ACADVLacyl-CoA dehydrogenase very long chainShares 1 condition
- ACTC1actin alpha cardiac muscle 1Shares 1 condition
- ALPK3alpha kinase 3Shares 1 condition
- BRAFB-Raf proto-oncogene, serine/threonine kinaseShares 1 condition
- CDKN1Ccyclin dependent kinase inhibitor 1CShares 1 condition
- CNBPCCHC-type zinc finger nucleic acid binding proteinShares 1 condition
- CSRP3cysteine and glycine rich protein 3Shares 1 condition
- DHHdesert hedgehog signaling moleculeShares 1 condition
- DHX37DEAH-box helicase 37Shares 1 condition
- ERFETS2 repressor factorShares 1 condition
- ETFAelectron transfer flavoprotein subunit alphaShares 1 condition
- ETFBelectron transfer flavoprotein subunit betaShares 1 condition
Traits linked to DMPK
The Human Phenotype Ontology lists these as features of the rare conditions DMPK can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). DMPK gene: DM1 protein kinase. Retrieved 16 October 2026, from https://dantelabs.com/genes/dmpk
Dante Labs. DMPK gene: DM1 protein kinase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dmpk
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