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DMPK (dystrophia myotonica protein kinase)

Identity

Other namesDM
DM1
DM1PK
DMK
MDPK
MT-PK
HGNC (Hugo) DMPK
LocusID (NCBI) 1760
Atlas_Id 40339
Location 19q13.32  [Link to chromosome band 19q13]
Location_base_pair Starts at 46272967 and ends at 46285815 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BOLA2 (16p11.2) / DMPK (19q13.32)DEGS1 (1q42.11) / DMPK (19q13.32)DMPK (19q13.32) / DMPK (19q13.32)
DMPK (19q13.32) / ERCC1 (19q13.32)DMPK (19q13.32) / RSPH6A (19q13.32)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)DMPK   2933
Cards
Entrez_Gene (NCBI)DMPK  1760  dystrophia myotonica protein kinase
AliasesDM; DM1; DM1PK; DMK; 
MDPK; MT-PK
GeneCards (Weizmann)DMPK
Ensembl hg19 (Hinxton)ENSG00000104936 [Gene_View]  chr19:46272967-46285815 [Contig_View]  DMPK [Vega]
Ensembl hg38 (Hinxton)ENSG00000104936 [Gene_View]  chr19:46272967-46285815 [Contig_View]  DMPK [Vega]
ICGC DataPortalENSG00000104936
TCGA cBioPortalDMPK
AceView (NCBI)DMPK
Genatlas (Paris)DMPK
WikiGenes1760
SOURCE (Princeton)DMPK
Genomic and cartography
GoldenPath hg19 (UCSC)DMPK  -     chr19:46272967-46285815 -  19q13.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DMPK  -     19q13.32   [Description]    (hg38-Dec_2013)
EnsemblDMPK - 19q13.32 [CytoView hg19]  DMPK - 19q13.32 [CytoView hg38]
Mapping of homologs : NCBIDMPK [Mapview hg19]  DMPK [Mapview hg38]
OMIM160900   605377   
Gene and transcription
Genbank (Entrez)AB209363 AK297299 AK302874 AK304749 AV655848
RefSeq transcript (Entrez)NM_001081560 NM_001081562 NM_001081563 NM_001288764 NM_001288765 NM_001288766 NM_004409
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_009784 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)DMPK
Cluster EST : UnigeneHs.631596 [ NCBI ]
CGAP (NCI)Hs.631596
Alternative Splicing GalleryENSG00000104936
Gene ExpressionDMPK [ NCBI-GEO ]   DMPK [ EBI - ARRAY_EXPRESS ]   DMPK [ SEEK ]   DMPK [ MEM ]
Gene Expression Viewer (FireBrowse)DMPK [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1760
GTEX Portal (Tissue expression)DMPK
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ09013 (Uniprot)
NextProtQ09013  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ09013
Splice isoforms : SwissVarQ09013 (Swissvar)
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
PhosPhoSitePlusQ09013
Domaine pattern : Prosite (Expaxy)AGC_KINASE_CTER (PS51285)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)AGC-kinase_C    Kinase-like_dom    Myotonic_dystrophy_kinase_coil    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_dual-sp_kinase    Ser/Thr_kinase_AS   
Domain families : Pfam (Sanger)DMPK_coil (PF08826)    Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam08826    pfam00069   
Domain families : Smart (EMBL)S_TK_X (SM00133)  S_TKc (SM00220)  
Domain structure : Prodom (Prabi Lyon)Myotonic_dystrophy_kinase_coil (PD011252)   
DMDM Disease mutations1760
Blocks (Seattle)DMPK
PDB (SRS)1WT6    2VD5   
PDB (PDBSum)1WT6    2VD5   
PDB (IMB)1WT6    2VD5   
PDB (RSDB)1WT6    2VD5   
Structural Biology KnowledgeBase1WT6    2VD5   
SCOP (Structural Classification of Proteins)1WT6    2VD5   
CATH (Classification of proteins structures)1WT6    2VD5   
SuperfamilyQ09013
Human Protein AtlasENSG00000104936
Peptide AtlasQ09013
HPRD05645
IPIIPI00305254   IPI00215958   IPI00418464   IPI01011451   IPI00790469   IPI00555911   IPI00855901   IPI00220439   IPI00220440   IPI00220441   IPI00220442   IPI00220443   IPI00644326   IPI00215962   IPI00872095   IPI01010510   
Protein Interaction databases
DIP (DOE-UCLA)Q09013
IntAct (EBI)Q09013
FunCoupENSG00000104936
BioGRIDDMPK
STRING (EMBL)DMPK
ZODIACDMPK
Ontologies - Pathways
QuickGOQ09013
Ontology : AmiGOregulation of sodium ion transport  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein binding  ATP binding  nuclear outer membrane  endoplasmic reticulum membrane  cytosol  plasma membrane  plasma membrane  protein phosphorylation  cellular calcium ion homeostasis  cellular calcium ion homeostasis  nuclear envelope organization  regulation of heart contraction  muscle cell apoptotic process  regulation of myotube differentiation  regulation of skeletal muscle contraction by calcium ion signaling  regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction  myosin phosphatase regulator activity  peptidyl-serine phosphorylation  heat shock protein binding  integral component of mitochondrial outer membrane  nuclear membrane  nuclear membrane  sarcoplasmic reticulum membrane  sarcoplasmic reticulum membrane  sarcoplasmic reticulum membrane  intracellular signal transduction  metal ion binding  regulation of catalytic activity  regulation of synapse structural plasticity  regulation of cardiac conduction  
Ontology : EGO-EBIregulation of sodium ion transport  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein binding  ATP binding  nuclear outer membrane  endoplasmic reticulum membrane  cytosol  plasma membrane  plasma membrane  protein phosphorylation  cellular calcium ion homeostasis  cellular calcium ion homeostasis  nuclear envelope organization  regulation of heart contraction  muscle cell apoptotic process  regulation of myotube differentiation  regulation of skeletal muscle contraction by calcium ion signaling  regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction  myosin phosphatase regulator activity  peptidyl-serine phosphorylation  heat shock protein binding  integral component of mitochondrial outer membrane  nuclear membrane  nuclear membrane  sarcoplasmic reticulum membrane  sarcoplasmic reticulum membrane  sarcoplasmic reticulum membrane  intracellular signal transduction  metal ion binding  regulation of catalytic activity  regulation of synapse structural plasticity  regulation of cardiac conduction  
NDEx NetworkDMPK
Atlas of Cancer Signalling NetworkDMPK
Wikipedia pathwaysDMPK
Orthology - Evolution
OrthoDB1760
GeneTree (enSembl)ENSG00000104936
Phylogenetic Trees/Animal Genes : TreeFamDMPK
Homologs : HomoloGeneDMPK
Homology/Alignments : Family Browser (UCSC)DMPK
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerDMPK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DMPK
dbVarDMPK
ClinVarDMPK
1000_GenomesDMPK 
Exome Variant ServerDMPK
ExAC (Exome Aggregation Consortium)DMPK (select the gene name)
Genetic variants : HAPMAP1760
Genomic Variants (DGV)DMPK [DGVbeta]
Mutations
ICGC Data PortalDMPK 
TCGA Data PortalDMPK 
Broad Tumor PortalDMPK
OASIS PortalDMPK [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDMPK 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch DMPK
DgiDB (Drug Gene Interaction Database)DMPK
DoCM (Curated mutations)DMPK (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DMPK (select a term)
intoGenDMPK
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)19:46272967-46285815  ENSG00000104936
CONAN: Copy Number AnalysisDMPK 
Mutations and Diseases : HGMDDMPK
OMIM160900    605377   
MedgenDMPK
Genetic Testing Registry DMPK
NextProtQ09013 [Medical]
TSGene1760
GENETestsDMPK
Huge Navigator DMPK [HugePedia]
snp3D : Map Gene to Disease1760
BioCentury BCIQDMPK
ClinGenDMPK
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1760
Chemical/Pharm GKB GenePA27380
Clinical trialDMPK
Miscellaneous
canSAR (ICR)DMPK (select the gene name)
Probes
Litterature
PubMed134 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDMPK
EVEXDMPK
GoPubMedDMPK
iHOPDMPK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 19 18:46:14 CEST 2016

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