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DGKH Gene

protein-coding   GIFtS: 56
GCID: GC13P042622

Diacylglycerol Kinase, Eta

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(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, Eta1 2     EC 2.7.1.1073 8
Diglyceride Kinase Eta2 3     DGKeta2
DGK-eta2 3     Diacylglycerol Kinase Eta2
DAG Kinase Eta2 3     

External Ids:    HGNC: 28541   Entrez Gene: 1608512   Ensembl: ENSG000001027807   OMIM: 6040715   UniProtKB: Q86XP13   

Export aliases for DGKH gene to outside databases

Previous GC identifers: GC13U990039 GC13P041559 GC13P040420 GC13P041520 GC13P023427


(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 DGKH Gene:
This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family of proteins, specifically the type II
DGK subfamily. Members of this family are involved in regulating the intracellular concentrations of
diacylglycerol and phosphatidic acid. Alternatively spliced transcript variants encoding distinct isoforms have
been identified for this gene. (provided by RefSeq, Mar 2011)

GeneCards Summary for DGKH Gene:
DGKH (diacylglycerol kinase, eta) is a protein-coding gene. GO annotations related to this gene include diacylglycerol kinase activity and phospholipid binding. An important paralog of this gene is DGKA.

UniProtKB/Swiss-Prot: DGKH_HUMAN, Q86XP1
Function: Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA). Plays a key role in promoting
cell growth. Activates the Ras/B-Raf/C-Raf/MEK/ERK signaling pathway induced by EGF. Regulates the recruitment of
RAF1 and BRAF from cytoplasm to membranes and their heterodimerization

summary for DGKH 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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Regulatory elements:
   Regulatory transcription factor binding sites in the DGKH gene promoter:
         SRF   TBP   GATA-3   SRF (504 AA)   NF-AT   GATA-1   GATA-2   MEF-2A   aMEF-2   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DGKH promoter sequence
   Search Chromatin IP Primers for DGKH

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


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

Entrez Gene cytogenetic band: 13q14.11   Ensembl cytogenetic band:  13q14.11   HGNC cytogenetic band: 13q13.3

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

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P042622:  view genomic region     (about GC identifiers)

Start:
42,614,172 bp from pter      End:
42,830,714 bp from pter
Size:
216,543 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DGKH_HUMAN, Q86XP1 (See protein sequence)
Recommended Name: Diacylglycerol kinase eta  
Size: 1220 amino acids; 134866 Da
Subunit: Isoform 1 forms homooligomers through the SAM domain. Isoform 1 is also able to form heterooligomers with
SAM domain-containing isoforms of DGKD. Oligomerization of isoform 1 inhibits its catalytic activity. Interacts
with RAF1 and BRAF
Sequence caution: Sequence=BAC05280.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A2A2W7 A6NFX7 B4DZ34 Q5VZW0 Q6PI56 Q86XP2 Q8N3N0 Q8N7J9
Alternative splicing: 4 isoforms:  Q86XP1-1   Q86XP1-2   Q86XP1-3   Q86XP1-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DGKH: NX_Q86XP1

Explore proteomics data for DGKH at MOPED

Post-translational modifications: 

  • Phosphorylated; does not inhibit catalytic activity1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DGKH (Q86XP1) (see all 16)
     QVDGEAW  PVQVDGE  MWYGVLG  MLDRWSI 


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

    REFSEQ proteins (5 alternative transcripts): 
    NP_001191433.1  NP_001191434.1  NP_001191435.1  NP_690874.2  NP_821077.1  

    ENSEMBL proteins: 
     ENSP00000337572   ENSP00000261491   ENSP00000440823   ENSP00000368576   ENSP00000445114  
     ENSP00000441308  
    Reactome Protein details: Q86XP1

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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online kits for DGKH (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PLEKH: Pleckstrin homology (PH) domain containing
    SAMD: Sterile alpha motif (SAM) domain containing

    Selected InterPro protein domains (see all 9):
     IPR001206 Diacylglycerol_kinase_cat_dom
     IPR001849 Pleckstrin_homology
     IPR000756 Diacylglycerol_kin_accessory
     IPR011993 PH_like_dom
     IPR013761 SAM/pointed

    Graphical View of Domain Structure for InterPro Entry Q86XP1

    ProtoNet protein and cluster: Q86XP1

    5 Blocks protein domains:
    IPB000756 Diacylglycerol kinase accessory domain (presumed)
    IPB001660 Sterile alpha motif SAM
    IPB001849 Pleckstrin-like
    IPB002219 Protein kinase C
    IPB011510 Sterile alpha motif homology 2


    UniProtKB/Swiss-Prot: DGKH_HUMAN, Q86XP1
    Similarity: Belongs to the eukaryotic diacylglycerol kinase family
    Similarity: Contains 1 DAGKc domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 2 phorbol-ester/DAG-type zinc fingers
    Similarity: Contains 1 SAM (sterile alpha motif) domain


    Find genes that share domains with DGKH           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DGKH_HUMAN, Q86XP1
    Function: Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA). Plays a key role in promoting
    cell growth. Activates the Ras/B-Raf/C-Raf/MEK/ERK signaling pathway induced by EGF. Regulates the recruitment of
    RAF1 and BRAF from cytoplasm to membranes and their heterodimerization
    Catalytic activity: ATP + 1,2-diacyl-sn-glycerol = ADP + 1,2-diacyl-sn-glycerol 3-phosphate

         Enzyme Number (IUBMB): EC 2.7.1.1071 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003951NAD+ kinase activity IEA--
    GO:0004143diacylglycerol kinase activity IMP12810723
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with DGKH           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for DGKH:
     Decreased Salmonella enterica   Gemcitabine induced cell-death 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for DGKH

    miRNA
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    hsa-mir-1 (MIRT023493)

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    hsa-miR-29a hsa-miR-29c hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidDGKH 3' UTR sequence
    Inhib. RNA
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    (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
    DGKH_HUMAN, Q86XP1: Cytoplasm. Cell membrane. Note=Translocated from the cytoplasm to endosomes in response to
    stress stimuli. Isoform 2 is rapidly relocated back to the cytoplasm upon removal of stress stimuli, whereas
    isoform 1 exhibits sustained endosomal association. Translocates from the cytoplasm to the cell membrane in the
    presence of active GTP-bound form of HRAS
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    plasma membrane5
    nucleus4
    cytosol3
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005768endosome IDA12810723
    GO:0005886plasma membrane TAS--
    GO:0031965nuclear membrane IDA--

    Find genes that share ontologies with DGKH           About GenesLikeMe


    (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 DGKH 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


    Find genes that share SuperPaths with DGKH           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for DGKH
        Effects of PIP2 hydrolysis


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

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

        Search GeneGlobe Interaction Network for DGKH

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

    Selected Interacting proteins for DGKH (Q86XP13 ENSP000003375724) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DGKDQ167603, ENSP000002640574I2D: score=2 STRING: ENSP00000264057
    ARRB1P494073I2D: score=1 
    AGPAT2ENSP000003607614STRING: ENSP00000360761
    AGPAT4ENSP000003140364STRING: ENSP00000314036
    CHPT1ENSP000002292664STRING: ENSP00000229266
    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 IMP12810723
    GO:0007596blood coagulation TAS--
    GO:0030168platelet activation TAS--
    GO:0035556intracellular signal transduction IEA--
    GO:0051259protein oligomerization IMP12810723

    Find genes that share ontologies with DGKH           About GenesLikeMe



    (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 DGKH available from Tocris Bioscience    About this table
    CompoundAction CAS #
    DioctanoylglycolDiacylglycerol kinase inhibitor[627-86-1]

    Selected HMDB Compounds for DGKH (see all 865)    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)----



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DGKH gene (5 alternative transcripts): 
    NM_001204504.1  NM_001204505.1  NM_001204506.1  NM_152910.4  NM_178009.3  

    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000337343 ENST00000261491(uc010tfh.2 uc001uym.2) ENST00000498255(uc001uyp.3)
    ENST00000489851 ENST00000540693 ENST00000379274(uc001uyl.2 uc001uyo.2 uc010tfj.2)
    ENST00000536612(uc001uyn.2 uc010tfi.2) ENST00000538674
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    22 AceView cDNA sequences:

    BU101575 AW052032 BV178988 AA722077 BX955520 AI333565 AI382581 BE715967 
    BG723110 N57320 BE087080 BI562169 AB078967 AB078968 BC043292 AI333566 
    NM_152910 BU101813 NM_178009 N32231 N32224 AK122909 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DGKH (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
    SP1:                          -     -     -     -     -     -                                                                                                   
    SP2:                          -     -     -     -     -     -                                                                                                   
    SP3:                                                  -     -                                                                                                   
    SP4:                                                  -     -                                                                                                   
    SP5:                                                                                                                                                            

    ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34a · 34b · 34c · 34d
    SP1:                                                              -           -                           
    SP2:                                                              -     -     -                           
    SP3:                                                              -                                       
    SP4:                                                                          -                           
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for DGKH

    (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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    DGKH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCAAATATA
    DGKH Expression
    About this image

    DGKH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DGKH Protein Expression

    UniProtKB/Swiss-Prot: DGKH_HUMAN, Q86XP1
    Tissue specificity: Isoform 2 is ubiquitously expressed. Isoform 1 is expressed only in testis, kidney and colon

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    In Situ
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    (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 DGKH gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dgkh1 , 5 diacylglycerol kinase, eta1, 5 86.76(n)1
    92.19(a)1
      14 (41.56 cM)5
    3809211  NM_001253766.11  NP_001240695.11 
     785696095 
    chicken
    (Gallus gallus)
    Aves DGKH1 diacylglycerol kinase, eta 80.45(n)
    84.81(a)
      769506  XM_001232790.2  XP_001232791.2 
    lizard
    (Anolis carolinensis)
    Reptilia DGKH6
    diacylglycerol kinase, eta
    81(a)
    1 ↔ 1
    3(70270166-70387147)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dgkh1 diacylglycerol kinase, eta 77.18(n)
    82.59(a)
      100486581  XM_004911834.1  XP_004911891.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dgkh1 diacylglycerol kinase, eta 71.23(n)
    77.89(a)
      100137124  XM_005167979.1  XP_005168036.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG343841 CG34384 52.72(n)
    52.66(a)
      5740362  NM_001104234.4  NP_001097704.1 
    worm
    (Caenorhabditis elegans)
    Secernentea dgk-46
    Protein DGK-4, isoform a
    31(a)
    1 → many
    IV(8631334-8644004) WBGene00006483
    Alicante grape
    (Vitis vinifera)
    eudicotyledons Vvi.33342 Vitis vinifera transcribed sequence with moderate similarity more 74.95(n)    CB915531.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DGKH gene
    DGKA2  DGKQ2  DGKG2  DGKB2  DGKD2  DGKI2  DGKE2  DGKZ2  
    2 SIMAP similar genes for DGKH using alignment to 2 protein entries:     DGKH_HUMAN (see all proteins):
    DGKD    DGKK

    Find genes that share paralogs with DGKH           About GenesLikeMe



    (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 DGKH (see all 3987)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1916882331,2
    --23417585(+) GGCGGG/TGGCGG 1 -- int10--------
    rs2012584031,2
    C--23425757(+) GCGTGG/TAAAGC 3 -- int10--------
    rs1426381401,2
    --23425980(+) ATTCCC/TGGCGG 3 -- int10--------
    rs760206411,2
    C--23425981(+) TTCCCC/GGCGGC 3 -- int10--------
    rs1896633691,2
    C--23426041(+) GCGGGG/TGCAGG 3 -- int10--------
    rs113009281,2
    C,F--23454006(+) CTGATT/GTGGTT 3 -- int13Minor allele frequency- G:0.47NA 138
    rs759457541,2
    C--23454006(+) CTGATG/-TGGTT 3 -- int12Minor allele frequency- -:0.25NA 4
    rs58031111,2
    C--23461648(+) TTAGT-/AAAAAA 3 -- int1 trp30--------
    rs348617281,2
    C--23481759(+) ATACA-/TATG  
            
    TATGT
    3 -- int10--------
    rs746350611,2
    --23481761(+) ACATAC/TGTATG 3 -- int11Minor allele frequency- T:0.00CSA 1

    HapMap Linkage Disequilibrium report for DGKH (42614172 - 42830714 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DGKH (see all 24):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1238821CNV Deletion17803354
    esv2747311CNV Deletion23290073
    esv2952CNV Deletion18987735
    esv2646739CNV Deletion19546169
    esv2661097CNV Deletion23128226
    esv2150531CNV Deletion18987734
    esv2747310CNV Deletion23290073
    esv2747313CNV Deletion23290073
    esv2747312CNV Deletion23290073
    nsv1016CNV Insertion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DGKH
    DNA2.0 Custom Variant and Variant Library Synthesis for DGKH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604071    OMIM disorders: --


    Find genes that share disorders with DGKH           About GenesLikeMe

    Genetic Association Database (GAD): DGKH
    Human Genome Epidemiology (HuGE) Navigator: DGKH (7 documents)

    Export disorders for DGKH 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 DGKH gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with DGKH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Diacylglycerol kinase eta augments C-Raf activity and B-Raf/C-Raf heterodimerization. (PubMed id 19710016)1, 2, 9 Yasuda S.... Sakane F. (J. Biol. Chem. 2009)
    2. A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder. (PubMed id 17486107)1, 4, 9 Baum A.E....McMahon F.J. (Mol. Psychiatry 2008)
    3. Identification and characterization of two splice variants of human diacylglycerol kinase eta. (PubMed id 12810723)1, 2, 9 Murakami T.... Kanoh H. (J. Biol. Chem. 2003)
    4. No association between DGKH and bipolar disorder in a Scandinavian case-control sample. (PubMed id 19478689)1, 4, 9 Tesli M....Djurovic S. (Psychiatr. Genet. 2009)
    5. Interacting genes in lithium prophylaxis: preliminary results of an exploratory analysis on the role of DGKH and NR1D1 gene polymorphisms in 199 Sardinian bipolar patients. (PubMed id 19818381)1, 4, 9 Manchia M....Del Zompo M. (Neurosci. Lett. 2009)
    6. A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1. (PubMed id 22396660)1, 4 Urabe Y....Matsuda K. (PLoS Genet. 2012)
    7. A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PubMed id 20189936)1, 4 Okada Y....Kamatani N. (Hum. Mol. Genet. 2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population. (PubMed id 19328558)1, 4 Yosifova A....Nakamura Y. (J Affect Disord 2009)
    10. Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort. (PubMed id 19308021)1, 4 Ollila H.M....Paunio T. (Mol. Psychiatry 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 160851 HGNC: 2854 AceView: DGKH Ensembl:ENSG00000102780 euGenes: HUgn160851
    ECgene: DGKH Kegg: 160851 H-InvDB: DGKH

    (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)
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    NameDescription
    PharmGKB entry for DGKH 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 DGKH gene:
    Search GeneIP for patents involving DGKH

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



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