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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
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, dystrophia myotonica protein kinase
  • Vertebrate Orthologs
    8
  • Human Ortholog
    DMPK, dystrophia myotonica protein kinase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DM, DM1, DM1PK, DMK, MDPK, MT-PK
  • Links
    NCBI Gene ID: 1760
    neXtProt AC: NX_Q09013

  • Chr Location
    19q13.3; chr19:45769709-45782557 (-)  GRCh38.p2

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

Human Disease Mouse Models
       Myotonic Dystrophy 1; DM1   OMIM: 160900 View 8 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    17 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
    45 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
  • Other Mouse Links
  • Other Vertebrate Links
    Xenbase dmpk
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
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Molecular
Reagents
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  • All nucleic 65
    Genomic 10
    cDNA 51
    Primer pair 4

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-8866
References
more
  • Summaries
    All 69
    Developmental Gene Expression 11
    Diseases 17
    Gene Ontology 13
    Phenotypes 45
  • 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:233532 Scekic-Zahirovic J, et al., Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss. EMBO J. 2016 May 17;35(10):1077-97

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory