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DGKE Gene

protein-coding   GIFtS: 68
GCID: GC17P054911

Diacylglycerol Kinase, Epsilon 64kDa

(Previous names: diacylglycerol kinase, epsilon (64kD))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Diacylglycerol Kinase, Epsilon 64kDa1 2     NPHS72 5
Diglyceride Kinase Epsilon2 3     Diacylglycerol Kinase, Epsilon (64kD)1
DAGK52 3     DAGK62
DGK-epsilon2 3     DGK2
DAG Kinase Epsilon2 3     Diacylglycerol Kinase Epsilon2
EC 2.7.1.1073 8     

External Ids:    HGNC: 28521   Entrez Gene: 85262   Ensembl: ENSG000001539337   OMIM: 6014405   UniProtKB: P524293   

Export aliases for DGKE gene to outside databases

Previous GC identifers: GC17P054648 GC17P057392 GC17P055253 GC17P055386 GC17P052266 GC17P050271


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DGKE Gene:
Diacylglycerol kinases are thought to be involved mainly in the regeneration of phosphatidylinositol (PI) from
diacylglycerol in the PI-cycle during cell signal transduction. When expressed in mammalian cells, DGK-epsilon
shows specificity for arachidonyl-containing diacylglycerol. DGK-epsilon is expressed predominantly in testis.
(provided by RefSeq, Jul 2008)

GeneCards Summary for DGKE Gene:
DGKE (diacylglycerol kinase, epsilon 64kDa) is a protein-coding gene. Diseases associated with DGKE include nephrotic syndrome, type 7, and atypical hemolytic-uremic syndrome. GO annotations related to this gene include diacylglycerol kinase activity and NAD+ kinase activity. An important paralog of this gene is DGKH.

UniProtKB/Swiss-Prot: DGKE_HUMAN, P52429
Function: Highly selective for arachidonate-containing species of diacylglycerol (DAG). May terminate signals
transmitted through arachidonoyl-DAG or may contribute to the synthesis of phospholipids with defined fatty acid
composition

summary for DGKE Gene:
Diacylglycerol kinases (DGKs) are a group of ten enzymes (DGKalpha, DGKbeta, DGKgamma, DGKdelta, DGKepsilon,
DGKzeta, DGKeta, DGKtheta, DGKiota and DGKkappa) that metabolize 1,2,diacylglycerol (DAG) to produce
phosphatidic acid (PA). They all contain a conserved C'-terminal catalytic domain, two cysteine-rich
Zn2+-finger motifs that bind DAG and an ATP-binding site, whilst the regulatory domain varies. DGKs are
widely distributed throughout mammalian tissues and different isozymes have different subcellular
localizations; some are cytosolic (for example DGKalpha), some are membrane-bound (for example DGKgamma is
associated with the Golgi membrane) and some are nuclear (for example DGKzeta. DGKs have diverse biological
roles as they participate in signal transduction by modulating levels of DAG in a variety of cellular
responses to extracellular stimuli.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DGKE gene promoter:
         RFX1   FOXO3   MIF-1   FOXO3b   HEN1   AREB6   MEF-2A   NRF-2   FOXO3a   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDGKE promoter sequence
   Search Chromatin IP Primers for DGKE

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DGKE


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q22   Ensembl cytogenetic band:  17q22   HGNC cytogenetic band: 17q22

DGKE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DGKE gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P054911:  view genomic region     (about GC identifiers)

Start:
54,911,460 bp from pter      End:
54,946,036 bp from pter
Size:
34,577 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DGKE_HUMAN, P52429 (See protein sequence)
Recommended Name: Diacylglycerol kinase epsilon  
Size: 567 amino acids; 63927 Da
Secondary accessions: Q9UKQ3

Explore the universe of human proteins at neXtProt for DGKE: NX_P52429

Explore proteomics data for DGKE at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys357
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for DGKE (P52429)
     PMQVDGE  PLGTGNDL  CGGDGTVGW 


    See DGKE Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003638.1  
    ENSEMBL proteins: 
     ENSP00000284061   ENSP00000459295   ENSP00000458493   ENSP00000459958  
    Reactome Protein details: P52429

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001206 Diacylglycerol_kinase_cat_dom
     IPR000756 Diacylglycerol_kin_accessory
     IPR002219 Prot_Kinase_C-like_PE/DAG-bd
     IPR016064 ATP-NAD_kinase_PpnK-typ

    Graphical View of Domain Structure for InterPro Entry P52429

    ProtoNet protein and cluster: P52429

    1 Blocks protein domain: IPB000756 Diacylglycerol kinase accessory domain (presumed)

    UniProtKB/Swiss-Prot: DGKE_HUMAN, P52429
    Similarity: Belongs to the eukaryotic diacylglycerol kinase family
    Similarity: Contains 1 DAGKc domain
    Similarity: Contains 2 phorbol-ester/DAG-type zinc fingers


    DGKE for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DGKE_HUMAN, P52429
    Function: Highly selective for arachidonate-containing species of diacylglycerol (DAG). May terminate signals
    transmitted through arachidonoyl-DAG or may contribute to the synthesis of phospholipids with defined fatty acid
    composition
    Catalytic activity: ATP + 1,2-diacyl-sn-glycerol = ADP + 1,2-diacyl-sn-glycerol 3-phosphate

         Genatlas biochemistry entry for DGKE:
    diacylglycerol kinase epsilon,expressed predominantly in the testis and the retina,converting diacylglycerol to
    phosphatidic acid,involved in the phosphorylation of arachidonate containing diacylglycerol,

         Enzyme Number (IUBMB): EC 2.7.1.1071 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003951NAD+ kinase activity IEA--
    GO:0004143diacylglycerol kinase activity IEA--
    GO:0005524ATP binding IEA--
    GO:0046872metal ion binding IEA--
         
    DGKE for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DGKE:
     Decreased focal adhesion (FA)  

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dgke):
     behavior/neurological  nervous system 

    DGKE for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dgketm1Ngb for DGKE

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DGKE
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    miRNA
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    miRTarBase miRNAs that target DGKE:
    hsa-mir-615-3p (MIRT039816)

    Block miRNA regulation of human, mouse, rat DGKE using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DGKE (see all 77):
    hsa-miR-3678-3p hsa-miR-520e hsa-miR-298 hsa-miR-3116 hsa-miR-489 hsa-miR-3613-3p hsa-miR-130b hsa-miR-520b
    SwitchGear 3'UTR luciferase reporter plasmidDGKE 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DGKE

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DGKE


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DGKE_HUMAN, P52429: Membrane; Multi-pass membrane protein (Potential). Membrane. Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol3
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane TAS--
    GO:0016020membrane IDA--
    GO:0016021integral component of membrane IEA--

    DGKE for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for DGKE About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    2Gastrin-CREB signalling pathway via PKC and MAPK
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90
    3Hemostasis
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43
    4Glycerophospholipid biosynthesis
    Glycerophospholipid metabolism0.62
    5Inositol phosphate metabolism (KEGG)
    Phosphatidylinositol signaling system0.61

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for DGKE
        Effects of PIP2 hydrolysis


    4 Kegg Pathways  (Kegg details for DGKE):
        Glycerolipid metabolism
    Glycerophospholipid metabolism
    Metabolic pathways
    Phosphatidylinositol signaling system


    DGKE for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DGKE
    Interactions:

        Search GeneGlobe Interaction Network for DGKE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DGKE (P524293 ENSP000002840614) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PAICSP222343, ENSP000003825954I2D: score=2 STRING: ENSP00000382595
    PDHA1P085593, ENSP000003943824I2D: score=2 STRING: ENSP00000394382
    SETQ011053, ENSP000003617774I2D: score=2 STRING: ENSP00000361777
    NUF2Q9BZD43, ENSP000002714524I2D: score=2 STRING: ENSP00000271452
    NUDCQ9Y2663, ENSP000003196644I2D: score=2 STRING: ENSP00000319664
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007205protein kinase C-activating G-protein coupled receptor signaling pathway IEA--
    GO:0007596blood coagulation TAS--
    GO:0008654phospholipid biosynthetic process TAS8626589
    GO:0030168platelet activation TAS--
    GO:0035556intracellular signal transduction IEA--

    DGKE for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for DGKE available from Tocris Bioscience    About this table
    CompoundAction CAS #
    DioctanoylglycolDiacylglycerol kinase inhibitor[627-86-1]

    Selected HMDB Compounds for DGKE (see all 862)    About this table
    CompoundSynonyms CAS #PubMed Ids
    DG(16:0e/18:0/0:0)2-Octadecanoyl-1-hexadecyl-sn-glycerol (see all 2)--12486725
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----

    6 Novoseek inferred chemical compound relationships for DGKE gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipid 40.4 3 10913605 (1), 11136721 (1), 9447972 (1)
    ceramide 34.5 5 12385893 (3), 16571915 (1)
    phosphoinositide 29.1 1 17360902 (1)
    fatty acid 16 1 10571048 (1)
    zinc 4.37 2 8626589 (1), 9438377 (1)
    glucose 0 1 15315262 (1)



    DGKE for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DGKE gene: 
    NM_003647.2  

    Unigene Cluster for DGKE:

    Diacylglycerol kinase, epsilon 64kDa
    Hs.239514  [show with all ESTs]
    Unigene Representative Sequence: NM_003647
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000284061(uc002iur.3) ENST00000572810 ENST00000576869 ENST00000572944(uc002ius.1)
    ENST00000571084 ENST00000570738
    miRNA
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    hsa-miR-3678-3p hsa-miR-520e hsa-miR-298 hsa-miR-3116 hsa-miR-489 hsa-miR-3613-3p hsa-miR-130b hsa-miR-520b
    SwitchGear 3'UTR luciferase reporter plasmidDGKE 3' UTR sequence
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    Additional mRNA sequence: 

    AB209365.1 AK057591.1 AK129803.1 AK293039.1 AK310668.1 BC022297.1 BC130629.1 BC130631.1 
    U49379.1 

    5 DOTS entries:

    DT.432573  DT.310317  DT.120927290  DT.92036162  DT.120956139 

    Selected AceView cDNA sequences (see all 28):

    BX329274 CA391764 CR622919 BG770880 AL555194 AI688534 BX089763 BM983232 
    AA287006 NM_003647 AL706818 BF732316 BC022297 BX390069 BX506599 U49379 
    AL555193 AA278962 AA284392 AA807749 BQ307355 AA252464 BE925781 AA764732 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for DGKE    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b
    SP1:                    -                                                                     
    SP2:                                                                                          
    SP3:                                                                                          


    ECgene alternative splicing isoforms for DGKE

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DGKE expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATTTTTATT
    DGKE Expression
    About this image


    DGKE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Heart (Cardiovascular System)
             Endocardial Tube Cells Endocardium
    DGKE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DGKE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.239514

    UniProtKB/Swiss-Prot: DGKE_HUMAN, P52429
    Tissue specificity: Expressed predominantly in testis. Expressed in endothelium, platelets and podocytes (at
    protein level)

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DGKE

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DGKE gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dgke1 , 5 diacylglycerol kinase, epsilon1, 5 87.23(n)1
    91.31(a)1
      11 (54.34 cM)5
    560771  NM_019505.31  NP_062378.11 
     890351795 
    chicken
    (Gallus gallus)
    Aves DGKE1 diacylglycerol kinase, epsilon 64kDa 77.11(n)
    79.42(a)
      770911  XM_001234225.3  XP_001234226.3 
    lizard
    (Anolis carolinensis)
    Reptilia DGKE6
    diacylglycerol kinase, epsilon 64kDa
    78(a)
    1 ↔ 1
    GL343198.1(597987-621886)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dgke1 diacylglycerol kinase, epsilon 64kDa 72.7(n)
    78.68(a)
      100489119  XM_002937809.2  XP_002937855.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dgke1 diacylglycerol kinase epsilon 68.09(n)
    72.07(a)
      100150463  NM_001172228.1  NP_001165699.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dgk&egr;3
    Dgkepsilon1
    phosphorylation diacylglycerol kinase3
    Diacyl glycerol kinase epsilon1
    37(a)3
    48.26(n)1
    39.38(a)1
      49D23
    364081  NM_165949.11  NP_725228.11 
    worm
    (Caenorhabditis elegans)
    Secernentea dgk-21 , 3 diaglycerol kinase3
    dgk-21
    35(a)3
    48.7(n)1
    40.04(a)1
      X(4530446-4539381)3
    1807201  NM_001029508.31  NP_001024679.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DGK11 DGK1 47.29(n)
    39.59(a)
      830686  NM_120874.2  NP_196409.1 
    rice
    (Oryza sativa)
    Liliopsida Os12g05769001 Os12g0576900 47.77(n)
    38.46(a)
      4352615  NM_001073643.1  NP_001067111.1 


    ENSEMBL Gene Tree for DGKE (if available)
    TreeFam Gene Tree for DGKE (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DGKE gene
    DGKH2  DGKQ2  DGKB2  DGKI2  DGKZ2  DGKA2  DGKG2  DGKD2  
    2 SIMAP similar genes for DGKE using alignment to 5 protein entries:     DGKE_HUMAN (see all proteins):
    DGKQ    DGKA

    DGKE for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DGKE (see all 700)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0361204
    A breast cancer sample4--see VAR_0361202 L R mis40--------
    rs3122626941,2,4
    Hemolytic uremic syndrome atypical 7 (AHUS7)4--see VAR_0698042 mis40--------
    rs1389246611,2
    Cuntested154926134(+) GGTTGG/AGGTAC 2 /* /W stg11Minor allele frequency- A:0.00NA 4550
    rs1836649791,2
    --50269728(+) CGTGTA/CTATGC 1 -- us2k10--------
    rs1435157901,2
    --50269734(+) TATGCA/GGGTCC 1 -- us2k10--------
    rs1144301251,2
    F--50269984(+) GGTGCG/AATCTC 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs72091981,2
    C,F,A,H--50270016(+) cctggA/Gttaag 1 -- us2k1 tfbs37Minor allele frequency- G:0.48WA NA EA 366
    rs1158186261,2
    C,F--54913329(+) TGCTGC/TTTTGC 1 -- int11Minor allele frequency- T:0.08WA 118
    rs1510854431,2
    --54913391(+) GTCCAC/GTCTGG 1 -- int10--------
    rs563803381,2
    C,F--54913410(+) GACTGG/ACCTCC 1 -- int12Minor allele frequency- A:0.04NA EA 240

    HapMap Linkage Disequilibrium report for DGKE (54911460 - 54946036 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for DGKE:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658087CNV Deletion23128226
    nsv833495CNV Loss17160897
    esv32884CNV Loss17666407
    nsv908632CNV Loss21882294

    Human Gene Mutation Database (HGMD): DGKE
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DGKE
    DNA2.0 Custom Variant and Variant Library Synthesis for DGKE

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601440   
    OMIM disorders: 615008  
    UniProtKB/Swiss-Prot: DGKE_HUMAN, P52429
  • Nephrotic syndrome 7 (NPHS7) [MIM:615008]: A form of nephrotic syndrome, a renal disease clinically
    characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and
    edema. NPHS7 is an autosomal recessive form characterized by onset of proteinuria usually in the first decade of
    life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal
    biopsy typically shows membranoproliferative glomerulonephritis. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Hemolytic uremic syndrome atypical 7 (AHUS7) [MIM:615008]: An atypical form of hemolytic uremic syndrome
    characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia,
    and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other
    genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry

  • 17 diseases for DGKE:    
    About MalaCards
    nephrotic syndrome, type 7    atypical hemolytic-uremic syndrome    retinal degeneration    hemolytic-uremic syndrome
    retinitis pigmentosa    hyperglycemia    retinitis    breast and colorectal cancer
    insulin resistance    hypoxia    multiple myeloma    malaria
    endotheliitis    myeloma    colorectal cancer    leukemia
    neuronitis


    DGKE for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for DGKE gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinal degeneration 44 3 10798401 (1), 9183747 (1)

    Genetic Association Database (GAD): DGKE
    Human Genome Epidemiology (HuGE) Navigator: DGKE (2 documents)

    Export disorders for DGKE gene to outside databases

    (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 DGKE gene, integrated from 10 sources (see all 57):
    (articles sorted by number of sources associating them with DGKE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of a novel human diacylglycerol kinase highly selective for arachidonate-containing substrates. (PubMed id 8626589)1, 2, 3, 9 Tang W.... Prescott S.M. (J. Biol. Chem. 1996)
    2. Characterization of the human diacylglycerol kinase epsilon gene and its assessment as a candidate for inherited retinitis pigmentosa. (PubMed id 10571048)1, 2, 9 Tang W.... Prescott S.M. (Gene 1999)
    3. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. (PubMed id 23542698)1, 2 Lemaire M....Lifton R.P. (Nat. Genet. 2013)
    4. DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN. (PubMed id 23274426)1, 2 Ozaltin F.... Attanasio M. (J. Am. Soc. Nephrol. 2013)
    5. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (BMC Med. Genet. 2010)
    6. Phosphoinositide cycle gene polymorphisms affect the plasma lipid profile in the Quebec Family Study. (PubMed id 19329342)1, 4 Dolley G....Vohl M.C. (Mol. Genet. Metab. 2009)
    7. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (Nat. Genet. 2008)
    8. Cytogenetic assignment and physical mapping of the human DGKE gene to chromosome 17q22. (PubMed id 10051413)1, 3 Hart T.C....Van Dyke T.E. (Genomics 1999)
    9. Role of the hydrophobic segment of diacylglycerol kinase epsilon. (PubMed id 17455907)1, 9 Dicu A.O....Epand R.M. (Biochemistry 2007)
    10. Diacylglycerol kinase epsilon is selective for both acyl chains of phosphatidic acid or diacylglycerol. (PubMed id 19744926)1, 9 Lung M....Epand R.M. (J. Biol. Chem. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8526 HGNC: 2852 AceView: DGKE Ensembl:ENSG00000153933 euGenes: HUgn8526
    ECgene: DGKE Kegg: 8526 H-InvDB: DGKE

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for DGKE Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DGKE gene:
    Search GeneIP for patents involving DGKE

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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