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Dmpk
Gene Detail
 Symbol
Name
ID
Dmpk
dystrophia myotonica-protein kinase
MGI:94906
Synonyms DM, Dm15
Feature Type protein coding gene
Genetic Map
Chromosome 7
9.46 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr7:19083849-19093821 bp, + strand
From VEGA annotation of GRCm38

  9973 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3247  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog

Gene Tree: Dmpk

Human
homologs
Human Homolog DMPK, dystrophia myotonica-protein kinase
NCBI Gene ID 1760
neXtProt AC  NX_Q09013
Human Synonyms  DM, DM1, DM1PK, DMK, MDPK, MT-PK
Human Chr (Location)  19q13.3; chr19:45769709-45782557 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human DMPK
Alleles
and
phenotypes
All alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Dmpk (1)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (41 annotations)
Process cellular calcium ion homeostasis, muscle cell apoptotic process, ...
Component cytoplasm, cytosol, ...
Function ATP binding, heat shock protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (9 records)
Data Summary: Results (59)    Tissues (47)    Images (9)
Theiler Stages: 16, 17, 18, 19, 20, 22, 24, 26, 28
Assay TypeResults
Immunohistochemistry 14
RNA in situ 12
RT-PCR 21
RNase protection 12
cDNA source data(51)
External Resources: GEO   ArrayExpress
Molecular
reagents
All nucleic(65) Genomic(10) cDNA(51) Primer pair(4)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000024656 (Evidence)
Ensembl Gene ModelENSMUSG00000030409 (Evidence)
Entrez Gene13400 (Evidence)
UniGene6529
DFCITC1581969, TC1601490, TC1638755, TC1680043, TC1699923, TC1731518
DoTSDT.101733310, DT.102552789, DT.489662, DT.55162485
NIA Mouse Gene IndexU007752, U028213
EC2.7.11.1
Consensus CDS ProjectCCDS39794.1, CCDS52053.1, CCDS52054.1
International Mouse Knockout Project StatusDmpk
Sequences
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 sequences
All sequences(109) RefSeq(26) UniProt(6)
Polymorphisms PCR(2) : SNPs within 2kb(92 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000961 AGC-kinase, C-terminal
InterPro IPR014930 Myotonic dystrophy protein kinase, coiled coil
InterPro IPR017441 Protein kinase, ATP binding site
InterPro IPR000719 Protein kinase, catalytic domain
InterPro IPR011009 Protein kinase-like domain
InterPro IPR002290 Serine/threonine- / dual specificity protein kinase, catalytic domain
InterPro IPR008271 Serine/threonine-protein kinase, active site
Protein Ontology PR:000006541 myotonin-protein kinase
References (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:199127 Poulos MG, et al., Progressive impairment of muscle regeneration in muscleblind-like 3 isoform knockout mice. Hum Mol Genet. 2013 Sep 1;22(17):3547-58
All references(70)
Other
accession IDs
MGD-MRK-8866

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
07/15/2014
MGI 5.18
The Jackson Laboratory