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Relevance to Autism

This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. For example, positive genetic association has been found between a triplet repeat in the DMPK gene and autism with increasing repeat expansions in a Swedish population (Ekstrom et al., 2008).

Molecular Function

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.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms.
Myotonic dystrophy type 1
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia
SCZ
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Highly Cited
Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy.
Highly Cited
RNA leaching of transcription factors disrupts transcription in myotonic dystrophy.
Highly Cited
Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat.
Recent Recommendation
Genome-wide detection of tandem DNA repeats that are expanded in autism
ASD
DD, myotonic dystrophy-1
Recent Recommendation
Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN071R001 
 missense_variant 
 c.1223G>T 
 p.Gly408Val 
 De novo 
 NA 
  
 GEN071R002 
 missense_variant 
 c.1759T>C 
 p.Cys587Arg 
 De novo 
 NA 
 Simplex 
 GEN071R003 
 splice_site_variant 
 c.253-2A>T 
  
 Familial 
 Maternal 
 Multiplex 
 GEN071R004 
 trinucleotide_repeat_microsatellite_feature, 3_prime_UTR_variant 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN071R005 
 trinucleotide_repeat_microsatellite_feature, 3_prime_UTR_variant 
  
  
 Unknown 
 Not maternal 
 Multiplex 
 GEN071R006 
 trinucleotide_repeat_microsatellite_feature, 3_prime_UTR_variant 
  
  
 Unknown 
  
 Simplex 
 GEN071R007 
 trinucleotide_repeat_microsatellite_feature, 3_prime_UTR_variant 
  
  
 Unknown 
  
 Simplex 
 GEN071R008 
 trinucleotide_repeat_microsatellite_feature, 3_prime_UTR_variant 
  
  
 Unknown 
  
 Simplex 
 GEN071R009 
 trinucleotide_repeat_microsatellite_feature, 3_prime_UTR_variant 
  
  
 Unknown 
  
 Simplex 
 GEN071R010 
 trinucleotide_repeat_microsatellite_feature, 3_prime_UTR_variant 
  
  
 Unknown 
  
 Simplex 
 GEN071R011 
 trinucleotide_repeat_microsatellite_feature, 3_prime_UTR_variant 
  
  
 Familial 
 Paternal 
 Simplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN071C001 
 trinucleotide_repeat_microsatellite_feature, 3_prime_UTR_variant 
  
 c.*224_*226CTG(51_?);c.*217_*219CTG(51_?) 
  
 Swedish 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion-Duplication
 13
 

Model Summary

Simple loss- or gain-of-expression of DMPK is not the only crucial requirement for development of myotonic dystrophy.

References

Type
Title
Author, Year
Primary
Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.

M_DMPK_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Homologous recombination mediated replacement of ATG translation start and 10 of 11 conserved kinase domains of Dmpk gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: C57BL/6
ES Cell Line: E14
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DMPK_2_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Homologous recombination mediated replacement of ATG translation start and 10 of 11 conserved kinase domains of Dmpk gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: C57BL/6
ES Cell Line: E14
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DMPK_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Developmental trajectory1
 No change
 NA
 Unreported
General characteristics1
 No change
 General observations
 Unreported
Size/growth1
 No change
 General observations
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_DMPK_2_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General characteristics1
 No change
 General observations
 Unreported
Size/growth1
 No change
 General observations
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ATN1 atrophin 1 1822 P54259 Y2H
Lim J , et al. 2006
ATXN1 ataxin 1 6310 P54253 Y2H
Lim J , et al. 2006
CELF1 CUGBP, Elav-like family member 1 10658 Q92879 IP/WB; Metabolic labeling with 32P
Roberts R , et al. 1997
DMPK dystrophia myotonica-protein kinase 1760 Q09013 Metabolic labeling with 32P
Dunne PW , et al. 1994
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
FXYD1 FXYD domain containing ion transport regulator 1 476487 P56513 GST; WB
Mounsey JP , et al. 2000
GABARAP GABA(A) receptor-associated protein 11337 O95166 Y2H
Stelzl U , et al. 2005
HOXA2 homeobox A2 3199 O43364 Y2H
Corominas R , et al. 2014
HSPB2 heat shock 27kDa protein 2 3316 Q16082 Y2H; GST; IP/WB
Suzuki A , et al. 1998
MBNL1 muscleblind-like splicing regulator 1 4154 Q9NR56 EMSA; Fluorescence in situ hybridization
Carpentier C , et al. 2014
MBNL2 muscleblind-like splicing regulator 2 10150 Q5VZF2 EMSA; Fluorescence in situ hybridization
Carpentier C , et al. 2014
MBP myelin basic protein 4155 P02686 Metabolic labeling with 32P
Suzuki A , et al. 1998
PLN phospholamban 5350 P26678 IP/WB; WB; Metabolic labeling with 32P
Kaliman P , et al. 2004
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 5879 P63000 GST; IP/WB
Shimizu M , et al. 2000
RAF1 v-raf-1 murine leukemia viral oncogene homolog 1 5894 P04049 Metabolic labeling with 32P
Shimizu M , et al. 2000
UBQLN4 ubiquilin 4 56893 Q9NRR5 Y2H
Lim J , et al. 2006
MECP2 methyl CpG binding protein 2 (Rett syndrome) 4204 P51608 ChIP
Horike S , et al. 2004
Ppp1r12a protein phosphatase 1, regulatory (inhibitor) subunit 12A 17931 Q9DBR7 Metabolic labeling with 32P
Wansink DG , et al. 2003

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