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Dmpk Gene Detail
Summary
  • Symbol
    Dmpk
  • Name
    dystrophia myotonica-protein kinase
  • Synonyms
    DM, Dm15
  • Feature Type
    protein coding gene
  • IDs
    MGI:94906
    NCBI Gene: 13400
  • Gene Overview
    MyGene.info: DMPK
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr7:19083849-19093821 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      9973 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 9.46 cM
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    DMPK, DM1 protein kinase
  • Vertebrate Orthologs
    8
  • Human Ortholog
    DMPK, DM1 protein kinase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DM, DM1, DM1PK, DMK, MDPK, MT-PK
  • Links
    NCBI Gene ID: 1760
    neXtProt AC: NX_Q09013
    UniProt: Q09013

  • Chr Location
    19q13.32; chr19:45769709-45782557 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Dmpk mouse models; 1 with human DMPK associations

Human Disease Mouse Models
      
IDs
View 8 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    17 phenotypes from 3 alleles in 3 genetic backgrounds
    65 phenotypes from multigenic genotypes
    52 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for a null mutation exhibit abnormal sodium channel gating in cardiac myocytes, cardiac conduction defects, and late-onset progressive skeletal myopathy. Homozygotes for a second null mutation do not develop skeletal myopathy but do have abnormal muscle intracellular calcium levels.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000024656 VEGA Gene Model | MGI Sequence Detail 9973 C57BL/6J ±  kb
    transcript OTTMUST00000060629 VEGA | MGI Sequence Detail 2761 Not Applicable  
    polypeptide OTTMUSP00000029595 VEGA | MGI Sequence Detail 631 Not Applicable  
    For the selected sequence
    Polymorphisms
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    • SNPs within 2kb
      80 from dbSNP Build 142
    • PCR
    Protein
    Information
    less
    Molecular
    Reagents
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    • All nucleic 65
      Genomic 10
      cDNA 51
      Primer pair 4

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-8866
    References
    more
    • Summaries
      All 100
      Developmental Gene Expression 11
      Diseases 8
      Gene Ontology 13
      Phenotypes 52
    • Earliest
      J:12705 Jansen G, et al., Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. Nat Genet. 1992 Jul;1(4):261-6
    • Latest
      J:254355 Sicot G, et al., Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy. Cell Rep. 2017 Jun 27;19(13):2718-2729

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    Funding Information
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    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory