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... See more...

Aliases for DMPK Gene

Aliases for DMPK Gene

  • DM1 Protein Kinase 2 3 4 5
  • Myotonin-Protein Kinase 2 3 4
  • DM1PK 2 3 4
  • MT-PK 2 3 4
  • MDPK 2 3 4
  • DMK 2 3 4
  • Myotonic Dystrophy Associated Protein Kinase 2 3
  • Dystrophia Myotonica Protein Kinase 2 3
  • Myotonin Protein Kinase A 2 3
  • Thymopoietin Homolog 2 3
  • DM Protein Kinase 2 3
  • EC 2.7.11.1 4 51
  • Dystrophia Myotonica 1 (Includes Dystrophia Myotonia Protein Kinase) 2
  • Myotonic Dystrophy Protein Kinase 4
  • Dystrophia Myotonica 1 2
  • DM-Kinase 4
  • DMPK 5
  • DM1 3
  • DM 3

External Ids for DMPK Gene

Previous HGNC Symbols for DMPK Gene

  • DM1
  • DM

Previous GeneCards Identifiers for DMPK Gene

  • GC19M046916
  • GC19M046663
  • GC19M050949
  • GC19M050964
  • GC19M046272
  • GC19M042701

Summaries for DMPK Gene

Entrez Gene Summary for DMPK Gene

  • 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]

GeneCards Summary for DMPK Gene

DMPK (DM1 Protein Kinase) is a Protein Coding gene. Diseases associated with DMPK include Myotonic Dystrophy 1 and Myotonic Dystrophy. Among its related pathways are G-protein signaling RAC1 in cellular process and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is MAST1.

UniProtKB/Swiss-Prot Summary for DMPK Gene

  • Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal muscle structure and function. May play a role in myocyte differentiation and survival by regulating the integrity of the nuclear envelope and the expression of muscle-specific genes. May also phosphorylate PPP1R12A and inhibit the myosin phosphatase activity to regulate myosin phosphorylation. Also critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity probably through the regulation of cellular calcium homeostasis. Phosphorylates PLN, a regulator of calcium pumps and may regulate sarcoplasmic reticulum calcium uptake in myocytes. May also phosphorylate FXYD1/PLM which is able to induce chloride currents. May also play a role in synaptic plasticity.

Gene Wiki entry for DMPK Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DMPK Gene

Genomics for DMPK Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DMPK Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DMPK on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DMPK

Top Transcription factor binding sites by QIAGEN in the DMPK gene promoter:
  • NF-kappaB
  • NF-kappaB1
  • Nkx2-5
  • SRF
  • SRF (504 AA)

Genomic Locations for DMPK Gene

Genomic Locations for DMPK Gene
chr19:45,769,709-45,782,552
(GRCh38/hg38)
Size:
12,844 bases
Orientation:
Minus strand
chr19:46,272,975-46,285,815
(GRCh37/hg19)
Size:
12,841 bases
Orientation:
Minus strand

Genomic View for DMPK Gene

Genes around DMPK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMPK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DMPK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMPK Gene

Proteins for DMPK Gene

  • Protein details for DMPK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q09013-DMPK_HUMAN
    Recommended name:
    Myotonin-protein kinase
    Protein Accession:
    Q09013
    Secondary Accessions:
    • E5KR08
    • Q16205
    • Q6P5Z6

    Protein attributes for DMPK Gene

    Size:
    629 amino acids
    Molecular mass:
    69385 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer; homodimerization stimulates the kinase activity. Interacts with HSPB2; may enhance DMPK kinase activity. Interacts with PLN; phosphorylates PLN. May interact with RAC1; may regulate DMPK kinase activity. Interacts with LMNA; may regulate nuclear envelope stability.
    SequenceCaution:
    • Sequence=AAA64884.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAA87583.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DMPK Gene

    Alternative splice isoforms for DMPK Gene

neXtProt entry for DMPK Gene

Selected DME Specific Peptides for DMPK Gene

Q09013:
  • DIKPDNI
  • KVIGRGAF
  • HRDIKPDN
  • RLADFGSCL
  • RIPAEMA
  • CFREERDVLV
  • GGDLLTLLS

Post-translational modifications for DMPK Gene

  • Phosphorylated. Autophosphorylates. Phosphorylation by RAF1 may result in activation of DMPK.
  • Proteolytic processing of the C-terminus may remove the transmembrane domain and release the kinase from membranes stimulating its activity.
  • Ubiquitination at Lys219
  • Modification sites at PhosphoSitePlus

Domains & Families for DMPK Gene

Gene Families for DMPK Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DMPK Gene

Suggested Antigen Peptide Sequences for DMPK Gene

GenScript: Design optimal peptide antigens:
  • Myotonic dystrophy protein kinase (DMPK_HUMAN)
  • Myotonin-protein kinase (E5KR07_HUMAN)
  • Myotonin-protein kinase (E5KR08_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q09013

UniProtKB/Swiss-Prot:

DMPK_HUMAN :
  • The coiled coil domain is required for homodimerization and regulates the enzymatic activity.
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily.
Domain:
  • The coiled coil domain is required for homodimerization and regulates the enzymatic activity.
Family:
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily.
genes like me logo Genes that share domains with DMPK: view

Function for DMPK Gene

Molecular function for DMPK Gene

UniProtKB/Swiss-Prot Function:
Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal muscle structure and function. May play a role in myocyte differentiation and survival by regulating the integrity of the nuclear envelope and the expression of muscle-specific genes. May also phosphorylate PPP1R12A and inhibit the myosin phosphatase activity to regulate myosin phosphorylation. Also critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity probably through the regulation of cellular calcium homeostasis. Phosphorylates PLN, a regulator of calcium pumps and may regulate sarcoplasmic reticulum calcium uptake in myocytes. May also phosphorylate FXYD1/PLM which is able to induce chloride currents. May also play a role in synaptic plasticity.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Coiled-coil-mediated oligomerization enhances the catalytic activity. Proteolytic processing of the C-terminus may release the protein from membranes and constitute a mean to regulate the enzyme. May be regulated by HSPB2, RAC1, RAF1 and G-protein second messengers.
GENATLAS Biochemistry:
myotonin protein kinase,72kDa (DMR-B15 homolog) modulator of the Ca++ homeostasis in skeletal muscle cells presenting a replication discrepancy between the normal and the mutant allele in cells with the CTG repeat expansion,involved in the organization of sarcoplasmic reticulum in skeletal muscle,binding and activated by HSPB2

Enzyme Numbers (IUBMB) for DMPK Gene

Phenotypes From GWAS Catalog for DMPK Gene

Gene Ontology (GO) - Molecular Function for DMPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IBA,IDA 10913253
GO:0005515 protein binding IPI 15598648
GO:0005524 ATP binding IDA 10913253
genes like me logo Genes that share ontologies with DMPK: view
genes like me logo Genes that share phenotypes with DMPK: view

Human Phenotype Ontology for DMPK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DMPK Gene

MGI Knock Outs for DMPK:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DMPK

Clone Products

  • Addgene plasmids for DMPK

No data available for Transcription Factor Targets and HOMER Transcription for DMPK Gene

Localization for DMPK Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMPK Gene

Endoplasmic reticulum membrane. Single-pass type IV membrane protein. Cytoplasmic side. Nucleus outer membrane. Single-pass type IV membrane protein. Cytoplasmic side. Mitochondrion outer membrane. Single-pass type IV membrane protein. Sarcoplasmic reticulum membrane. Cell membrane. Cytoplasm, cytosol. Note=Localizes to sarcoplasmic reticulum membranes of cardiomyocytes. {ECO:0000250}.
[Isoform 1]: Mitochondrion membrane.
[Isoform 3]: Mitochondrion membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DMPK gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 4
endoplasmic reticulum 4
cytoskeleton 3
extracellular 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DMPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005634 nucleus IEA --
GO:0005640 nuclear outer membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with DMPK: view

Pathways & Interactions for DMPK Gene

PathCards logo

SuperPathways for DMPK Gene

SuperPathway Contained pathways
1 Cardiac conduction
2 G-protein signaling RAC1 in cellular process
.37
genes like me logo Genes that share pathways with DMPK: view

Pathways by source for DMPK Gene

3 Reactome pathways for DMPK Gene
1 GeneGo (Thomson Reuters) pathway for DMPK Gene
  • G-protein signaling RAC1 in cellular process

SIGNOR curated interactions for DMPK Gene

Activates:

Gene Ontology (GO) - Biological Process for DMPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002028 regulation of sodium ion transport IEA --
GO:0006468 protein phosphorylation IDA 10913253
GO:0006874 cellular calcium ion homeostasis ISS --
GO:0006998 nuclear envelope organization IBA,IMP 21949239
GO:0008016 regulation of heart contraction IBA,IDA 15598648
genes like me logo Genes that share ontologies with DMPK: view

Drugs & Compounds for DMPK Gene

(13) Drugs for DMPK Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Bisindolylmaleimide VIII Experimental Pharma Target 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(8) Additional Compounds for DMPK Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with DMPK: view

Transcripts for DMPK Gene

mRNA/cDNA for DMPK Gene

7 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DMPK

Clone Products

  • Addgene plasmids for DMPK

Alternative Splicing Database (ASD) splice patterns (SP) for DMPK Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^
SP1: - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - - - - -
SP6: - - - -
SP7: -
SP8:
SP9:
SP10:

ExUns: 15 ^ 16a · 16b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:

Relevant External Links for DMPK Gene

GeneLoc Exon Structure for
DMPK

Expression for DMPK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DMPK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DMPK Gene

This gene is overexpressed in Synovial fluid (38.3), Urinary Bladder (6.7), and Colon (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DMPK Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DMPK

SOURCE GeneReport for Unigene cluster for DMPK Gene:

Hs.631596

mRNA Expression by UniProt/SwissProt for DMPK Gene:

Q09013-DMPK_HUMAN
Tissue specificity: Most isoforms are expressed in many tissues including heart, skeletal muscle, liver and brain, except for isoform 2 which is only found in the heart and skeletal muscle, and isoform 14 which is only found in the brain, with high levels in the striatum, cerebellar cortex and pons.

Evidence on tissue expression from TISSUES for DMPK Gene

  • Nervous system(4.8)
  • Muscle(4.7)
  • Heart(4.7)
  • Skin(3.1)
  • Blood(2.9)
  • Pancreas(2.7)
  • Kidney(2.7)
  • Intestine(2.7)
  • Liver(2.6)
  • Adrenal gland(2.5)
  • Spleen(2.4)
  • Thyroid gland(2.4)
  • Lymph node(2.4)
  • Lung(2.4)
  • Stomach(2.3)
  • Gall bladder(2.2)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DMPK Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • mouth
  • pharynx
  • pituitary gland
  • scalp
Thorax:
  • breast
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
  • stomach
Pelvis:
  • ovary
  • penis
  • placenta
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with DMPK: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for DMPK Gene

Orthologs for DMPK Gene

This gene was present in the common ancestor of animals.

Orthologs for DMPK Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DMPK 30 31
  • 99.84 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DMPK 30 31
  • 90.16 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DMPK 30 31
  • 89.48 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dmpk 30 17 31
  • 86.32 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dmpk 30
  • 85.86 (n)
Oppossum
(Monodelphis domestica)
Mammalia DMPK 31
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DMPK 31
  • 66 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DMPK 31
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dmpk 30
  • 56.35 (n)
Zebrafish
(Danio rerio)
Actinopterygii DMPK 31
  • 74 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta gek 31
  • 15 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea mrck-1 31
  • 16 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2297 31
  • 14 (a)
OneToMany
Species where no ortholog for DMPK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DMPK Gene

ENSEMBL:
Gene Tree for DMPK (if available)
TreeFam:
Gene Tree for DMPK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DMPK: view image

Paralogs for DMPK Gene

(38) SIMAP similar genes for DMPK Gene using alignment to 9 proteins:

  • DMPK_HUMAN
  • E5KR07_HUMAN
  • E5KR08_HUMAN
  • I6L989_HUMAN
  • K7EQX1_HUMAN
  • M0QXJ9_HUMAN
  • M0QZ00_HUMAN
  • M0R1F3_HUMAN
  • M0R333_HUMAN
genes like me logo Genes that share paralogs with DMPK: view

Variants for DMPK Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DMPK Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
187907 Pathogenic: Steinert myotonic dystrophy syndrome 45,770,204(-) C/CCAGCAGCAGCAGC THREE_PRIME_UTR_VARIANT
187908 Pathogenic: Steinert myotonic dystrophy syndrome 45,770,204(-) C/CCAGCAGCAGCAGC THREE_PRIME_UTR_VARIANT
187909 Pathogenic: Steinert myotonic dystrophy syndrome 45,770,204(-) C/CCAGCAGCAGCAGC THREE_PRIME_UTR_VARIANT
187910 Pathogenic: Steinert myotonic dystrophy syndrome 45,770,204(-) C/CCAGCAGCAGCAGC THREE_PRIME_UTR_VARIANT
187911 Pathogenic: Steinert myotonic dystrophy syndrome 45,770,204(-) C/CCAGCAGCAGCAGC THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for DMPK Gene

Structural Variations from Database of Genomic Variants (DGV) for DMPK Gene

Variant ID Type Subtype PubMed ID
esv2465515 CNV deletion 19546169
esv2718635 CNV deletion 23290073
esv2718636 CNV deletion 23290073
esv2718637 CNV deletion 23290073
esv2718638 CNV deletion 23290073
esv2718639 CNV deletion 23290073
esv2718641 CNV deletion 23290073
esv3087124 CNV deletion 24192839
esv3556469 CNV deletion 23714750
esv3644512 CNV loss 21293372
nsv1071538 CNV deletion 25765185
nsv1146520 CNV deletion 26484159
nsv512584 CNV loss 21212237
nsv579870 CNV loss 21841781
nsv828566 CNV gain 20364138

Variation tolerance for DMPK Gene

Residual Variation Intolerance Score: 35.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.26; 81.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DMPK Gene

Human Gene Mutation Database (HGMD)
DMPK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DMPK

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DMPK Gene

Disorders for DMPK Gene

MalaCards: The human disease database

(38) MalaCards diseases for DMPK Gene - From: LncRNADisease, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myotonic dystrophy 1
  • md1
myotonic dystrophy
  • myotonic dystrophy 1
myotonic dystrophy 2
  • dm2
myotonia
myotonic disease
  • myotonic syndrome
- elite association - COSMIC cancer census association via MalaCards
Search DMPK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DMPK_HUMAN
  • Dystrophia myotonica 1 (DM1) [MIM:160900]: A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. {ECO:0000269 PubMed:1302022, ECO:0000269 PubMed:1310900, ECO:0000269 PubMed:1546326, ECO:0000269 PubMed:19514047}. Note=The disease is caused by mutations affecting the gene represented in this entry. The causative mutation is a CTG expansion in the 3'-UTR of the DMPK gene. A length exceeding 50 CTG repeats is pathogenic, while normal individuals have 5 to 37 repeats. Intermediate alleles with 35-49 triplets are not disease-causing but show instability in intergenerational transmissions. Disease severity varies with the number of repeats: mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. {ECO:0000269 PubMed:1310900, ECO:0000269 PubMed:19514047}.

Additional Disease Information for DMPK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DMPK: view

No data available for Genatlas for DMPK Gene

Publications for DMPK Gene

  1. Structure of dystrophia myotonica protein kinase. (PMID: 19309729) Elkins JM … Knapp S (Protein science : a publication of the Protein Society 2009) 3 4 23
  2. CTG expansion & haplotype analysis in DM1 gene in healthy Iranian population. (PMID: 18574937) Shojasaffar B … Najmabadi H (The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2008) 3 23 41
  3. Myotonic dystrophy protein kinase phosphorylates phospholamban and regulates calcium uptake in cardiomyocyte sarcoplasmic reticulum. (PMID: 15598648) Kaliman P … Ruiz-Lozano P (The Journal of biological chemistry 2005) 3 4 23
  4. Divergent mitochondrial and endoplasmic reticulum association of DMPK splice isoforms depends on unique sequence arrangements in tail anchors. (PMID: 15684391) van Herpen RE … Wansink DG (Molecular and cellular biology 2005) 3 4 23
  5. Homodimerization through coiled-coil regions enhances activity of the myotonic dystrophy protein kinase. (PMID: 12832055) Zhang R … Epstein HF (FEBS letters 2003) 3 4 23

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