AutismKB 2.0

Annotation Details for DMPK


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Basic Information Top
Gene Symbol:DMPK ( DM,DM1,DM1PK,DMK,MDPK,MT-PK )
Gene Full Name: dystrophia myotonica-protein kinase
Band: 19q13.32
Quick LinksEntrez ID:1760; OMIM: 605377; Uniprot ID:DMPK_HUMAN; ENSEMBL ID: ENSG00000104936; HGNC ID: 2933
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005640IEA-nuclear outer membrane-
GO:0005789ISS-endoplasmic reticulum membrane-
GO:0005829ISS-cytosol-
GO:0005886IBA-plasma membrane-
GO:0005886ISS-plasma membrane-
GO:0031307IDA-integral component of mitochondrial outer membrane15684391
GO:0031965IBA-nuclear membrane-
GO:0031965ISS-nuclear membrane-
GO:0033017IBA-sarcoplasmic reticulum membrane-
GO:0033017ISS-sarcoplasmic reticulum membrane-
GO:0033017TAS-sarcoplasmic reticulum membrane-
GO ID Evidence Qualifier GO_term References
GO:0004674IDA-protein serine/threonine kinase activity10913253
GO:0004674TAS-protein serine/threonine kinase activity-
GO:0005515IPI-protein binding15598648
GO:0005524IDA-ATP binding10913253
GO:0017020IDA-myosin phosphatase regulator activity11287000
GO:0031072IEA-heat shock protein binding-
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0002028IEA-regulation of sodium ion transport-
GO:0006468IDA-protein phosphorylation10913253
GO:0006874IBA-cellular calcium ion homeostasis-
GO:0006874ISS-cellular calcium ion homeostasis-
GO:0006998IMP-nuclear envelope organization21949239
GO:0008016IDA-regulation of heart contraction15598648
GO:0010657IDA-muscle cell apoptotic process18729234
GO:0010830ISS-regulation of myotube differentiation-
GO:0014722IBA-regulation of skeletal muscle contraction by calcium ion signaling-
GO:0014853IEA-regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction-
GO:0018105IBA-peptidyl-serine phosphorylation-
GO:0050790IEA-regulation of catalytic activity-
GO:0051823IEA-regulation of synapse structural plasticity-
GO:1903779TAS-regulation of cardiac conduction-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
HSPB2DMPK1081009490724 10625651 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
HSPB2DMPK1095489490724 10625651 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
RAC1DMPK10810010869570 Reconstituted Complex
RAC1DMPK11181710869570 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:94906
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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