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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
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:18817774-18827746 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 7, 9.46 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    80 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_94906
protein coding gene Chr7:18817571-18827746 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031757
protein coding gene Chr7:17036993-17046924 (+)
A/J MGP_AJ_G0031733
protein coding gene Chr7:16724124-16734058 (+)
AKR/J MGP_AKRJ_G0031659
protein coding gene Chr7:17183107-17192913 (+)
BALB/cJ MGP_BALBcJ_G0031738
protein coding gene Chr7:16917172-16927192 (+)
C3H/HeJ MGP_C3HHeJ_G0031460
protein coding gene Chr7:17442074-17452121 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032204
protein coding gene Chr7:17927334-17937277 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029270
protein coding gene Chr7:18372624-18382566 (+)
CAST/EiJ MGP_CASTEiJ_G0030803
protein coding gene Chr7:13844577-13854581 (+)
CBA/J MGP_CBAJ_G0031422
protein coding gene Chr7:18570613-18585558 (+)
DBA/2J MGP_DBA2J_G0031577
protein coding gene Chr7:16659799-16669656 (+)
FVB/NJ MGP_FVBNJ_G0031529
protein coding gene Chr7:16523718-16533968 (+)
LP/J MGP_LPJ_G0031660
protein coding gene Chr7:17380103-17390074 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031565
protein coding gene Chr7:18438986-18449101 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032232
protein coding gene Chr7:16789958-16799878 (+)
PWK/PhJ MGP_PWKPhJ_G0030527
protein coding gene Chr7:13747860-13758243 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030354
protein coding gene Chr7:11473836-11483851 (+)
WSB/EiJ MGP_WSBEiJ_G0030903
protein coding gene Chr7:16991211-17003345 (+)



Homology
more
  • Human Ortholog
    DMPK, DM1 protein kinase
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DMPK, DM1 protein kinase
  • Synonyms
    DM, DM1, DM1PK, DMK, MDPK, MT-PK
  • Links
    NCBI Gene ID: 1760
    neXtProt AC: NX_Q09013
    UniProt: Q09013

  • Chr Location
    19q13.32; chr19:45769709-45782552 (-)  GRCh38

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

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    17 phenotypes from 4 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    25 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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000030409 Ensembl Gene Model | MGI Sequence Detail 9973 C57BL/6J ±  kb
    transcript ENSMUST00000032568 Ensembl | MGI Sequence Detail 2761 Not Applicable  
    polypeptide ENSMUSP00000032568 Ensembl | MGI Sequence Detail 631 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 69
      Genomic 10
      cDNA 51
      Primer pair 6
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-8866
    References
    more
    • Summaries
      All 82
      Developmental Gene Expression 14
      Diseases 2
      Gene Ontology 12
      Phenotypes 25
    • 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:338401 Nutter CA, et al., Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1. Brain. 2023 May 5;

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory