DMPK Gene
protein-coding GIFtS: 66
GCID: GC19M046272
|
|
dystrophia myotonica-protein kinase
| |
Aliases
for DMPK gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Dystrophia Myotonica-Protein Kinase1 2 | | DM-Kinase1 | | DMK1 2 3 5 | | DM1 Protein Kinase2 3 | | DM1PK1 2 3 | | EC 2.7.11.13 8 | | MDPK1 2 3 | | DM Protein Kinase2 | | MT-PK1 2 3 | | Myotonic Dystrophy Associated Protein Kinase2 | | DM1 2 5 | | Myotonin Protein Kinase A2 | | DM11 2 | | Myotonin-Protein Kinase2 | | Myotonic Dystrophy Protein Kinase2 3 | | Thymopoietin Homolog2 |
Export aliases for DMPK gene to outside databasesPrevious GC identifers: GC19M046916 GC19M046663 GC19M050949 GC19M050964 GC19M042701 |
Summaries
for DMPK gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for DMPK:
The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interactwith members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of theL-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-37 copies of a CTGtrinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, whichincreases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation oflocal chromatin structure that disrupts the expression of genes in this region. Several alternatively splicedtranscript variants of this gene have been described, but the full-length nature of some of these variants has notbeen determined. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: DMPK_HUMAN, Q09013Function: Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal musclestructure and function. May play a role in myocyte differentiation and survival by regulating the integrity of thenuclear envelope and the expression of muscle-specific genes. May also phosphorylate PPP1R12A and inhibit the myosinphosphatase activity to regulate myosin phosphorylation. Also critical to the modulation of cardiac contractility andto the maintenance of proper cardiac conduction activity probably through the regulation of cellular calciumhomeostasis. Phosphorylates PLN, a regulator of calcium pumps and may regulate sarcoplasmic reticulum calcium uptakein myocytes. May also phosphorylate FXYD1/PLM which is able to induce chloride currents. May also play a role insynaptic plasticity
Gene Wiki entry for DMPK (Myotonin-protein kinase)
|
Genomic Views
for DMPK gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_011109.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DMPK gene promoter:
SRF SRF (504 AA) Nkx2-5 NF-kappaB1 NF-kappaB
Other transcription factors
Search SABiosciences Chromatin IP Primers for DMPK
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DMPK |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19q13.3 Ensembl cytogenetic band: 19q13.32 HGNC cytogenetic band: 19q13.3DMPK Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19M046272: view genomic region
(about GC identifiers)
Start:
|
46,272,975 bp from pter |
End:
|
46,285,815 bp from pter |
Size:
|
12,841 bases |
Orientation:
|
minus strand |
|
Proteins
for DMPK gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: DMPK_HUMAN, Q09013 (See
protein sequence)Recommended Name: Myotonin-protein kinase Size: 629 amino acids; 69385 Da
Cofactor: Magnesium
Subunit: Homodimer; homodimerization stimulates the kinase activity. Interacts with HSPB2; may enhance DMPK kinaseactivity. Interacts with PLN; phosphorylates PLN. May interact with RAC1; may regulate DMPK kinase activity. Interactswith LMNA; may regulate nuclear envelope stability
Subcellular location: Endoplasmic reticulum membrane; Single-pass type IV membrane protein; Cytoplasmic side (Bysimilarity). Nucleus outer membrane; Single-pass type IV membrane protein; Cytoplasmic side (Probable). Mitochondrionouter membrane; Single-pass type IV membrane protein (Probable). Sarcoplasmic reticulum membrane (By similarity). Cellmembrane (By similarity). Cytoplasm, cytosol (By similarity). Note=Localizes to sarcoplasmic reticulum membranes ofcardiomyocytes (By similarity)
Subcellular location: Isoform 1: Mitochondrion membrane
Subcellular location: Isoform 3: Mitochondrion membrane
Sequence caution: Sequence=AAA64884.1; Type=Frameshift; Positions=56, 555, 568; Sequence=AAA87583.1; Type=Miscellaneousdiscrepancy; Note=Probable cloning artifact;
2 PDB 3D structures from  and Proteopedia  for DMPK:1WT6 (3D)
2VD5 (3D)
Secondary accessions: Q16205 Q6P5Z6Alternative splicing: 12 isoforms: Q09013-9 Q09013-11 Q09013-16 Q09013-15 Q09013-10 Q09013-12 Q09013-1 Q09013-2 Q09013-5 Q09013-6 Q09013-7 Q09013-8 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for DMPK: NX_Q09013
Post-translational modifications:
Phosphorylated. Autophosphorylates. Phosphorylation by RAF1 may result in activation of DMPK1
Proteolytic processing of the C-terminus may remove the transmembrane domain and release the kinase from membranesstimulating its activity1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q09013
4/7 DME Specific Peptides for DMPK (Q09013) (see all 7)
DMPK Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (4 alternative transcripts):
NP_001075029.1 NP_001075031.1 NP_001075032.1 NP_004400.4
ENSEMBL proteins: ENSP00000291270 ENSP00000468013 ENSP00000413417 ENSP00000401753 ENSP00000346168 ENSP00000345997 ENSP00000445208
Human Recombinant Protein Products:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
DMPK for ontologies About GeneDecksing
DMPK Antibody Products:
Assay Products for DMPK: |
Protein
Domains /
Families
for DMPK gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DMPK for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry Q09013ProtoNet protein and cluster: Q09013 1 Blocks protein family: IPB000961 Protein kinase C-terminal domain
UniProtKB/Swiss-Prot: DMPK_HUMAN, Q09013Domain: The coiled coil domain is required for homodimerization and regulates the enzymatic activitySimilarity: Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamilySimilarity: Contains 1 AGC-kinase C-terminal domainSimilarity: Contains 1 protein kinase domain |
Function
for DMPK gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: DMPK_HUMAN, Q09013Function: Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal musclestructure and function. May play a role in myocyte differentiation and survival by regulating the integrity of thenuclear envelope and the expression of muscle-specific genes. May also phosphorylate PPP1R12A and inhibit the myosinphosphatase activity to regulate myosin phosphorylation. Also critical to the modulation of cardiac contractility andto the maintenance of proper cardiac conduction activity probably through the regulation of cellular calciumhomeostasis. Phosphorylates PLN, a regulator of calcium pumps and may regulate sarcoplasmic reticulum calcium uptakein myocytes. May also phosphorylate FXYD1/PLM which is able to induce chloride currents. May also play a role insynaptic plasticityCatalytic activity: ATP + a protein = ADP + a phosphoproteinEnzyme regulation: Coiled-coil-mediated oligomerization enhances the catalytic activity. Proteolytic processing of theC-terminus may release the protein from membranes and constitute a mean to regulate the enzyme. May be regulated byHSPB2, RAC1, RAF1 and G-protein second messengers Genatlas biochemistry entry for DMPK:myotonin protein kinase,72kDa (DMR-B15 homolog) modulator of the Ca++ homeostasis in skeletal muscle cells presenting areplication discrepancy between the normal and the mutant allele in cells with the CTG repeat expansion,involved inthe organization of sarcoplasmic reticulum in skeletal muscle,binding and activated by HSPB2
Enzyme Number (IUBMB): EC 2.7.11.11 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DMPK (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DMPK (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 4): DMPK (NM_004409) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DMPK | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMPK |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMPK |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
DMPK for ontologies About GeneDecksing
6 GenomeRNAi human phenotypes for DMPK:
Animal Models:
Mouse knock-outs for DMPK: Dmpktm1Rdd Dmpktm1Bew
4 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Dmpk):
DMPK for phenotypes About GeneDecksing
|
Pathways & Interactions
for DMPK gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | G-protein signaling_RAC1 in cellular process | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for DMPK
1  GeneGo (Thomson Reuters) Pathway for DMPK
DMPK for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DMPK
STRING Interaction
Network Preview (showing 5 interactants - click image to see 14)
5/20 Interacting proteins for DMPK (Q090131, 2, 3 ENSP000003459974) via UniProtKB, MINT, STRING, and/or I2D (see all 20)About this table
Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table
DMPK for ontologies About GeneDecksing
|
Drugs & Compounds
for DMPK gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
DMPK for compounds About GeneDecksing
 Browse Tocris compounds for DMPK
3 HMDB Compounds for DMPK About this table
1 DrugBank Compound for DMPK About this table
10/18 Novoseek chemical compound relationships for DMPK gene (see all 18) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| threonine |
44.9 |
11 |
8281152 (1), 9092543 (1), 14502294 (1), 7726160 (1) (see all 10) |
| serine |
31.9 |
11 |
8281152 (1), 9092543 (1), 14502294 (1), 7726160 (1) (see all 10) |
| hinfi |
31.6 |
3 |
11216395 (2), 9589858 (1) |
| chloride |
17.8 |
4 |
7826272 (1), 8784800 (1), 9436436 (1), 18213585 (1) |
| agarose |
11.3 |
1 |
18925718 (1) |
| zinc |
9.79 |
7 |
20458885 (1), 19909263 (1), 15652222 (1) |
| ryanodine |
5.23 |
1 |
15598648 (1) |
| glucose |
4.91 |
4 |
17987120 (1), 12704419 (1) |
| thymine |
4.49 |
1 |
7826272 (1) |
| oligonucleotide |
0 |
3 |
9225761 (1), 8630033 (1) |
Search CenterWatch for drugs/clinical trials and news about DMPK
|
Transcripts
for DMPK gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for DMPK gene (4 alternative transcripts): NM_001081560.1 NM_001081562.1 NM_001081563.1 NM_004409.3 Unigene Cluster for DMPK: Dystrophia myotonica-protein kinase Hs.631596 [show with all ESTs]Unigene Representative Sequence: AB2093637 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000291270(uc010xxs.1 uc002pdf.1 uc002pdi.1) ENST00000588522
ENST00000447742(uc021uwb.1 uc002pdh.1) ENST00000458663(uc002pdg.1 uc010xxt.1)
ENST00000354227 ENST00000343373(uc002pdd.1 uc002pde.1 uc010xxu.1)
ENST00000544740
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DMPK (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DMPK (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 4): DMPK (NM_004409) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DMPK | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMPK |
Additional cDNA sequence: AB209363.1 AK297299.1 AK302874.1 AK304749.1 BC026328.1 BC062553.1 L19268.1 M87312.1 M87313.1 M94203.1 S72883.1 S86455.1 U46546.1 19 DOTS entries: DT.455347 DT.100747111 DT.102833828 DT.92433916 DT.100821277 DT.92433917 DT.91740962 DT.95308838 DT.100821286 DT.121497746 DT.75134000 DT.75109007 DT.92433919 DT.100821287 DT.91708539 DT.99954238 DT.121497739 DT.91997205 DT.97839664 24/311 AceView cDNA sequences (see all 311): AI027251 AI123378 AI659650 BQ953617 AA295068 BQ070737 BM966765 BF724333 BM676858 AI379513 BM709254 BC019266 CR597997 BF061846 BM893545 X62402 BC062553 AW013881 U46546 BE859030 BU177614 AI686153 CK823229 BX098437
GeneLoc Exon Structure
5/10 Alternative Splicing Database (ASD) splice patterns (SP) for DMPK (see all 10) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ |
|---|
|
| SP1: | | | | | | | - | | - | | | | | | - | | | | | | - | | - | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | - | | - | | - | | | | - | | | | | | - | | - | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | - | | - | | - | | | | - | | | | | | - | | - | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | - | | - | | - | | | | - | | | | | | - | | - | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | - | | | | | | - | | - | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | |
| ExUns: | 15 | ^ | 16a | · | 16b |
|---|
|
| SP1: | | | | | | | |
| SP2: | | | | | | | |
| SP3: | | | | | | | |
| SP4: | | | | | | | |
| SP5: | | | | | | |
ECgene alternative splicing isoforms for DMPK
|
Expression
for DMPK gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| DMPK expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACGCCCTGCT
About this image
See DMPK Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DMPK
SOURCE GeneReport for Unigene cluster: Hs.631596
UniProtKB/Swiss-Prot: DMPK_HUMAN, Q09013Tissue specificity: Most isoforms are expressed in many tissues including heart, skeletal muscle, liver and brain,except for isoform 2 which is only found in the heart and skeletal muscle, and isoform 14 which is only found in thebrain, with high levels in the striatum, cerebellar cortex and pons
SABiosciences Expression via Pathway-Focused PCR Array including DMPK:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DMPK
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DMPK | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DMPK | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DMPK | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMPK |
Orthologs
for DMPK gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for DMPK gene from 4/19 species (see all 19) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
lizard
(Anolis carolinensis) |
Reptilia |
DMPK6 |
-- |
63(a) |
1 ↔ 1 |
GL343962.1(87787-105112) |
zebrafish
(Danio rerio) |
Actinopterygii |
CU929346.16CABZ01014572.16 |
-- |
74(a)2(a) |
1 ↔ 1possible ortholog |
10(366481-368914) 8(4015429-4121991) |
fruit fly
(Drosophila melanogaster) |
Insecta |
gek6 |
genghis khan |
15(a) |
1 → many |
2R(19979600-19986157) |
worm
(Caenorhabditis elegans) |
Secernentea |
mrck-16 |
Myotonic dystrophy-Related, Cdc42-binding Kinase h... |
16(a) |
1 → many |
V(6257384-6267174) |
ENSEMBL Gene Tree for DMPK (if available)
TreeFam Gene Tree for DMPK (if available) |
Paralogs
for DMPK gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DMPK gene
- CDC42BPG2 LATS12 STK38L2 CDC42BPB2 STK382 CIT2 ROCK12 LATS22
- CDC42BPA2 ROCK22
18/33 SIMAP similar genes for DMPK using alignment to 10 protein entries: DMPK_HUMAN (see all proteins)
(see all similar genes):CDC42BPA CDC42BPB KIN27 PRKCE ROCK2 RPS6KA3
ROCK1 STK32A PRKACB STK38L STK32C STK38
AKT3 PRKX PRKACG SGK2 RPS6KA2 AKT2
DMPK for paralogs About GeneDecksing
|
Genomic Variants
for DMPK gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DMPK (46272975 - 46285815 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for DMPK
1 CNV: 102850
Human Gene Mutation Database (HGMD): DMPK
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DMPK |
|
Disorders
/ Diseases
for DMPK gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
DMPK for disorders About GeneDecksing
OMIM gene information: 605377
OMIM disorders: 160900
UniProtKB/Swiss-Prot: DMPK_HUMAN, Q09013
Defects in DMPK are the cause of dystrophia myotonica type 1 (DM1) [MIM:160900]; also known as Steinertdisease. A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract,hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. Note=The causative mutation is aCTG expansion in the 3'-UTR of the DMPK gene. A length exceeding 50 CTG repeats is pathogenic, while normalindividuals have 5 to 37 repeats. Intermediate alleles with 35-49 triplets are not disease-causing but showinstability in intergenerational transmissions. Disease severity varies with the number of repeats: mildly affectedpersons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onsetcan have more than 2,000 repeats
20/36  diseases for DMPK (see all 36): About MalaCardsmyotonic dystrophy 3-methylglutaconic aciduria spinal-bulbar muscular atrophy 3-methylglutaconic aciduria type 3
myotonic dystrophy type 2 myotonic dystrophy type 1 muscular dystrophy optic atrophy
congenital myotonic dystrophy muscular atrophy neuromuscular disease myasthenia gravis
insulin resistance myotonia hypertrophic cardiomyopathy atopic dermatitis
peripheral neuropathy hypogonadism myasthenia cataract
2 diseases from the University of Copenhagen DISEASES database for DMPK:Myotonic dystrophy Neuropathy 10/22 Novoseek disease relationships for DMPK gene (see all 22) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| myotonic dystrophy |
98.5 |
614 |
9607721 (9), 9535904 (5), 9276336 (5), 9811941 (4) (see all 99) |
| promm |
85.6 |
10 |
7826272 (4), 8784800 (1), 10665666 (1) |
| myotonic disorders |
84.1 |
5 |
7826272 (1), 9207101 (1), 9829272 (1), 15317754 (1) |
| myotonic dystrophy congenital |
80.6 |
3 |
11807903 (1), 8930628 (1), 12598332 (1) |
| myotonic muscular dystrophy |
80.1 |
6 |
7825566 (1), 7738201 (1), 10811636 (1) |
| muscular dystrophies |
78 |
11 |
9094985 (1), 18213585 (1), 11260612 (1), 19127114 (1) (see all 5) |
| neuromuscular diseases |
77.7 |
25 |
10970838 (1), 10480373 (1), 12150945 (1), 17549748 (1) (see all 17) |
| defect conduction |
69.5 |
4 |
11726559 (1), 8784800 (1), 10802667 (1), 10936001 (1) |
| cataract |
58 |
12 |
8784800 (2), 10802667 (2), 7826272 (1), 12630069 (1) (see all 8) |
| conduction abnormalities |
57.1 |
4 |
8784800 (1), 10021468 (1), 10802667 (1), 12397222 (1) |
GeneTests: DMPK
Myotonic Dystrophy Type 1
Genetic Association Database (GAD): DMPK
Human Genome Epidemiology (HuGE) Navigator: DMPK (26 documents)
Export disorders for DMPK gene to outside databases
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Publications
for DMPK gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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|
PubMed articles for DMPK gene, integrated from 9 sources (see all 292):
(articles sorted by number of sources associating them with DMPK) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- An unstable triplet repeat in a gene related to myotonic muscular dystrophy. (PubMed id 1546326)1, 2, 3 Fu Y.H....de Jong P. (1992)
- Phospholemman is a substrate for myotonic dystrophy protein kinase. (PubMed id 10811636)1, 2, 9 Mounsey J.P....Moorman J.R. (2000)
- Myotonic dystrophy protein kinase domains mediate localization, oligomerization, novel catalytic activity, and autoinhibition. (PubMed id 10913253)1, 2, 9 Bush E.W.... Perryman M.B. (2000)
- Homodimerization through coiled-coil regions enhances activity of the myotonic dystrophy protein kinase. (PubMed id 12832055)1, 2, 9 Zhang R. and Epstein H.F. (2003)
- Rac-1 and Raf-1 kinases, components of distinct signaling pathways, activate myotonic dystrophy protein kinase. (PubMed id 10869570)1, 2, 9 Shimizu M....Epstein H.F. (2000)
- Myotonic dystrophy protein kinase phosphorylates phospholamban and regulates calcium uptake in cardiomyocyte sarcoplasmic reticulum. (PubMed id 15598648)1, 2, 9 Kaliman P.... Ruiz-Lozano P. (2005)
- Divergent mitochondrial and endoplasmic reticulum association of DMPK splice isoforms depends on unique sequence arrangements in tail anchors. (PubMed id 15684391)1, 2, 9 van Herpen R.E....Wansink D.G. (2005)
- Myotonic dystrophy protein kinase phosphorylates the myosin phosphatase targeting subunit and inhibits myosin phosphatase activity. (PubMed id 11287000)1, 2, 9 Muranyi A....Hartshorne D.J. (2001)
- MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase. (PubMed id 9490724)1, 2, 9 Suzuki A....Ohno S. (1998)
- Structure of dystrophia myotonica protein kinase. (PubMed id 19309729)1, 2, 9 Elkins J.M....Knapp S. (2009)
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External Searches for DMPK gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing DMPK gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing DMPK gene
(According to HUGE)
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Specialized Databases showing DMPK gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for DMPK | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for DMPK | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DMPK |
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| Patent Information for DMPK gene:
Search GeneIP for patents involving DMPK
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for DMPK gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for DMPK | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DMPK | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DMPK | | | OriGene Protein Over-expression Lysate for DMPK | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DMPK | | OriGene 3'-UTR Clone for DMPK | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DMPK | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DMPK | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for DMPK | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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