This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014] See more...

Aliases for DGKH Gene

Aliases for DGKH Gene

  • Diacylglycerol Kinase Eta 2 3 4 5
  • Diglyceride Kinase Eta 3 4
  • DAG Kinase Eta 3 4
  • EC 2.7.1.107 4 50
  • DGKeta 2 3
  • DGK-Eta 4
  • DGKH 5

External Ids for DGKH Gene

Previous GeneCards Identifiers for DGKH Gene

  • GC13U990039
  • GC13P041559
  • GC13P040420
  • GC13P041520
  • GC13P042622
  • GC13P023427

Summaries for DGKH Gene

Entrez Gene Summary for DGKH Gene

  • This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014]

CIViC Summary for DGKH Gene

GeneCards Summary for DGKH Gene

DGKH (Diacylglycerol Kinase Eta) is a Protein Coding gene. Diseases associated with DGKH include Bipolar Disorder and Nephrolithiasis. Among its related pathways are Signaling by GPCR and Effects of PIP2 hydrolysis. Gene Ontology (GO) annotations related to this gene include NAD+ kinase activity and diacylglycerol kinase activity. An important paralog of this gene is DGKD.

UniProtKB/Swiss-Prot Summary for DGKH Gene

  • Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:12810723, PubMed:23949095). Thereby, acts as a central switch between the signaling pathways activated by these second messengers with different cellular targets and opposite effects in numerous biological processes (Probable) (PubMed:12810723, PubMed:23949095). Plays a key role in promoting cell growth (PubMed:19710016). Activates the Ras/B-Raf/C-Raf/MEK/ERK signaling pathway induced by EGF (PubMed:19710016). Regulates the recruitment of RAF1 and BRAF from cytoplasm to membranes and their heterodimerization (PubMed:19710016).

Tocris Summary for DGKH Gene

  • Diacylglycerol kinases (DGKs) are a group of ten enzymes that metabolize 1,2,diacylglycerol (DAG) to produce phosphatidic acid (PA). They all contain a conserved C'-terminal catalytic domain and two cysteine-rich Zn2+-finger motifs with varied regulatory domains.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DGKH Gene

Genomics for DGKH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DGKH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J042046 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 250.4 +8.4 8365 3.2 ZNF207 IKZF1 ZNF600 ZNF592 ZNF223 POLR2A ZIC2 ZBTB10 SMAD5 SIN3A ENSG00000231530 DGKH RNU6-74P VWA8 lnc-VWA8-9 AKAP11
GH13J042039 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.9 865 3.8 BCLAF1 MYC ZNF600 POLR2A ZIC2 CTCF REST SMAD5 SIN3A TRIM22 DGKH lnc-VWA8-9 ENSG00000231530 AKAP11
GH13J042138 Promoter 0.7 EPDnew 250.2 +98.0 98003 0.1 BCL11A BATF ATF2 JUNB CREM EED IKZF2 DGKH MN309174-136 MAPK6P3 AKAP11
GH13J041959 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 11.2 -78.5 -78534 4.6 BCLAF1 ZNF207 MYC ZNF600 ZNF580 ZMYM3 ATF2 POLR2A ZIC2 YY1 VWA8 VWA8-AS1 DGKH ENSG00000231530 RNU6-74P AKAP11 HSALNG0096646 RF00017-1276
GH13J041644 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 10.6 -391.5 -391532 8.7 ZNF654 CEBPA ATF3 YY1 REST CEBPB FOXA1 FEZF1 ZFP64 HOMEZ RGCC VWA8 NAA16 OR7E155P OR7E37P RNU6-57P DGKH ENSG00000231530 lnc-MTRF1-4 piR-32214-145
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DGKH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DGKH

Top Transcription factor binding sites by QIAGEN in the DGKH gene promoter:
  • aMEF-2
  • GATA-1
  • GATA-2
  • GATA-3
  • MEF-2A
  • NF-AT
  • NF-AT1
  • SRF
  • SRF (504 AA)
  • TBP

Genomic Locations for DGKH Gene

Latest Assembly
chr13:42,040,036-42,256,584
(GRCh38/hg38)
Size:
216,549 bases
Orientation:
Plus strand

Previous Assembly
chr13:42,614,206-42,830,720
(GRCh37/hg19 by Entrez Gene)
Size:
216,515 bases
Orientation:
Plus strand

chr13:42,614,176-42,830,714
(GRCh37/hg19 by Ensembl)
Size:
216,539 bases
Orientation:
Plus strand

Genomic View for DGKH Gene

Genes around DGKH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DGKH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DGKH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DGKH Gene

Proteins for DGKH Gene

  • Protein details for DGKH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86XP1-DGKH_HUMAN
    Recommended name:
    Diacylglycerol kinase eta
    Protein Accession:
    Q86XP1
    Secondary Accessions:
    • A2A2W7
    • A6NFX7
    • B4DZ34
    • Q5VZW0
    • Q6PI56
    • Q86XP2
    • Q8N3N0
    • Q8N7J9

    Protein attributes for DGKH Gene

    Size:
    1220 amino acids
    Molecular mass:
    134866 Da
    Quaternary structure:
    • Interacts with RAF1 and BRAF.
    • [Isoform 1]: Homooligomers (PubMed:12810723). Heterooligomers (PubMed:12810723). Oligomerization through the SAM domain inhibits the diacylglycerol kinase activity (PubMed:12810723). Heterooligomerizes with SAM domain-containing isoforms of DGKD (PubMed:12810723).
    • [Isoform 2]: Does not form homooligomers.
    SequenceCaution:
    • Sequence=BAC05280.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for DGKH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DGKH Gene

Selected DME Specific Peptides for DGKH Gene

Q86XP1:
  • MWYGVLG
  • KNLEQRVQLECDGQ
  • EHPEKCRSR
  • QVDGEAW
  • PLGTGNDL
  • KVGHVKRILQ
  • KTCGSVLRLQDW
  • VFVNSKSG
  • MLDRWSI
  • RRDLKDLG
  • EKCVMNNYFGIG
  • PVQVDGE
  • LSGVTSHGLSCEVCK
  • HHRIAQC
  • GDGSVGWVLSEID
  • EGNLPVS

Post-translational modifications for DGKH Gene

  • Phosphorylated. Phosphorylation does not inhibit catalytic activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for DGKH Gene

Gene Families for DGKH Gene

Protein Domains for DGKH Gene

InterPro:
Blocks:
  • Sterile alpha motif SAM
  • Sterile alpha motif homology 2
  • Pleckstrin-like
  • Protein kinase C, phorbol ester/diacylglycerol binding
  • Diacylglycerol kinase accessory domain (presumed)

Suggested Antigen Peptide Sequences for DGKH Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61490, highly similar to Diacylglycerol kinase eta (EC 2.7.1.107) (B4DZ34_HUMAN)
  • Diglyceride kinase eta (DGKH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86XP1

UniProtKB/Swiss-Prot:

DGKH_HUMAN :
  • The SAM domain mediates homooligomerization.
  • Belongs to the eukaryotic diacylglycerol kinase family.
Domain:
  • The SAM domain mediates homooligomerization.
Family:
  • Belongs to the eukaryotic diacylglycerol kinase family.
genes like me logo Genes that share domains with DGKH: view

Function for DGKH Gene

Molecular function for DGKH Gene

UniProtKB/Swiss-Prot Function:
Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:12810723, PubMed:23949095). Thereby, acts as a central switch between the signaling pathways activated by these second messengers with different cellular targets and opposite effects in numerous biological processes (Probable) (PubMed:12810723, PubMed:23949095). Plays a key role in promoting cell growth (PubMed:19710016). Activates the Ras/B-Raf/C-Raf/MEK/ERK signaling pathway induced by EGF (PubMed:19710016). Regulates the recruitment of RAF1 and BRAF from cytoplasm to membranes and their heterodimerization (PubMed:19710016).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycerol + ATP = a 1,2-diacyl-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:10272, ChEBI:CHEBI:15378, ChEBI:CHEBI:17815, ChEBI:CHEBI:30616, ChEBI:CHEBI:58608, ChEBI:CHEBI:456216; EC=2.7.1.107; Evidence={ECO:0000269|PubMed:12810723};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-di-(9Z-octadecenoyl)-sn-glycerol + ATP = 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:40327, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:52333, ChEBI:CHEBI:74546, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:12810723, ECO:0000269|PubMed:23949095};.
UniProtKB/Swiss-Prot Induction:
[Isoform 1]: Down-regulated by glucocorticoid.
UniProtKB/Swiss-Prot Induction:
[Isoform 2]: Up-regulated by glucocorticoid.

Enzyme Numbers (IUBMB) for DGKH Gene

Phenotypes From GWAS Catalog for DGKH Gene

Gene Ontology (GO) - Molecular Function for DGKH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003951 NAD+ kinase activity IEA --
GO:0004143 diacylglycerol kinase activity IDA,ISS --
GO:0005515 protein binding IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with DGKH: view
genes like me logo Genes that share phenotypes with DGKH: view

Animal Models for research

  • Taconic Biosciences Mouse Models for DGKH

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DGKH

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DGKH Gene

Localization for DGKH Gene

Subcellular locations from UniProtKB/Swiss-Prot for DGKH Gene

Cytoplasm. Cell membrane. Note=Translocated from the cytoplasm to endosomes in response to stress stimuli (PubMed:12810723). Isoform 2 is rapidly relocated back to the cytoplasm upon removal of stress stimuli, whereas isoform 1 exhibits sustained endosomal association (PubMed:12810723). Translocates from the cytoplasm to the cell membrane in the presence of active GTP-bound form of HRAS (PubMed:19710016).

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DGKH gene
Compartment Confidence
endosome 5
plasma membrane 4
cytoskeleton 4
cytosol 4
nucleus 3
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DGKH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 12810723
GO:0005768 endosome IDA 12810723
GO:0005886 plasma membrane TAS --
GO:0015629 actin cytoskeleton ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DGKH: view

Pathways & Interactions for DGKH Gene

genes like me logo Genes that share pathways with DGKH: view

UniProtKB/Swiss-Prot Q86XP1-DGKH_HUMAN

  • Pathway: Lipid metabolism; glycerolipid metabolism.

Gene Ontology (GO) - Biological Process for DGKH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006654 phosphatidic acid biosynthetic process ISS --
GO:0007165 signal transduction IEA --
GO:0007205 protein kinase C-activating G protein-coupled receptor signaling pathway IMP 12810723
GO:0016310 phosphorylation IEA --
GO:0030168 platelet activation TAS --
genes like me logo Genes that share ontologies with DGKH: view

No data available for SIGNOR curated interactions for DGKH Gene

Drugs & Compounds for DGKH Gene

(4) Drugs for DGKH Gene - From: DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
alpha-Tocopherol succinate Approved, Vet_approved Nutra Target 0
ATP Investigational Nutra 0
Dioctanoylglycol Pharma Diacylglycerol kinase inhibitor 0
R 59-022 Pharma Diacylglycerol kinase inhibitor; increases PKC activity 0

(26) Additional Compounds for DGKH Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
DG(16:0/24:0/0:0)
  • 1-Palmitoyl-2-lignoceroyl-sn-glycerol
  • DAG(16:0/24:0)
  • DAG(40:0)
  • DG(16:0/24:0)
  • DG(40:0)
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (11Z)-icos-11-enoic acid
  • Diacylglycerol(15:0/0:0/20:1)
  • DAG(35:1)
  • Diacylglycerol(35:1)
  • DG(15:0/0:0/20:1W9)
Diglycerides Group B
  • Diglyceride
  • DG(32:4)
  • DG(14:1/18:3)
  • DAG(14:1/18:3)
  • Diacylglycerol(32:4)
257891-89-7
Diglycerides Group C
  • (2S)-1-Hydroxy-3-(palmitoyloxy)propan-2-yl (5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate
  • 1,2-DG 16:0/20:4(omega-6)
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z)-icosatetraenoyl-sn-glycerol
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol
  • DAG(16:0/20:4)
91125-76-7, 29541-66-0, 51621-26-2

(2) Tocris Compounds for DGKH Gene

Compound Action Cas Number
Dioctanoylglycol Diacylglycerol kinase inhibitor 627-86-1
R 59-022 Diacylglycerol kinase inhibitor; increases PKC activity 93076-89-2
genes like me logo Genes that share compounds with DGKH: view

Transcripts for DGKH Gene

mRNA/cDNA for DGKH Gene

6 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DGKH

Alternative Splicing Database (ASD) splice patterns (SP) for DGKH Gene

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:
SP6:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34a · 34b · 34c · 34d
SP1: - -
SP2: - - -
SP3: -
SP4: -
SP5:
SP6:

Relevant External Links for DGKH Gene

GeneLoc Exon Structure for
DGKH

Expression for DGKH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DGKH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DGKH Gene

This gene is overexpressed in Plasma (31.0), Lung (25.0), and Heart (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DGKH Gene



Protein tissue co-expression partners for DGKH Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DGKH

SOURCE GeneReport for Unigene cluster for DGKH Gene:

Hs.733239

mRNA Expression by UniProt/SwissProt for DGKH Gene:

Q86XP1-DGKH_HUMAN
Tissue specificity: [Isoform 1]: Expressed only in testis, kidney and colon.

Evidence on tissue expression from TISSUES for DGKH Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with DGKH: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DGKH Gene

Orthologs for DGKH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DGKH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DGKH 29 30
  • 99.51 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DGKH 29 30
  • 92.08 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DGKH 29 30
  • 89.79 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dgkh 29 16 30
  • 86.76 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dgkh 29
  • 85.92 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia DGKH 30
  • 83 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DGKH 30
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DGKH 29 30
  • 80.45 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DGKH 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dgkh 29
  • 77.18 (n)
Zebrafish
(Danio rerio)
Actinopterygii dgkh 29 30
  • 71.23 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002226 29
  • 52.97 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG34384 29 30
  • 52.72 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea dgk-4 30
  • 31 (a)
OneToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3334 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2680 30
  • 48 (a)
OneToMany
Species where no ortholog for DGKH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DGKH Gene

ENSEMBL:
Gene Tree for DGKH (if available)
TreeFam:
Gene Tree for DGKH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DGKH: view image
Alliance of Genome Resources:
Additional Orthologs for DGKH

Paralogs for DGKH Gene

Paralogs for DGKH Gene

(2) SIMAP similar genes for DGKH Gene using alignment to 2 proteins:

  • DGKH_HUMAN
  • F5GYP2_HUMAN
genes like me logo Genes that share paralogs with DGKH: view

Variants for DGKH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DGKH Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
rs745829392 Likely Benign: not provided 42,189,059(+) C/T
NM_178009.5(DGKH):c.1662C>T (p.Leu554=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs17646069 -- p.Val1201Ala

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DGKH Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DGKH Gene

Variant ID Type Subtype PubMed ID
dgv104e215 CNV deletion 23714750
dgv961n106 CNV deletion 24896259
esv1238821 CNV deletion 17803354
esv2150531 CNV deletion 18987734
esv2646739 CNV deletion 19546169
esv2661097 CNV deletion 23128226
esv2747310 CNV deletion 23290073
esv2747311 CNV deletion 23290073
esv2747312 CNV deletion 23290073
esv2747313 CNV deletion 23290073
esv2759934 CNV loss 17122850
esv2952 CNV loss 18987735
esv3305161 CNV mobile element insertion 20981092
esv3323658 CNV insertion 20981092
esv3360672 CNV insertion 20981092
esv3580618 CNV loss 25503493
esv3631888 CNV loss 21293372
esv3631889 CNV gain 21293372
nsv1016 CNV insertion 18451855
nsv1070167 CNV deletion 25765185
nsv1134305 CNV deletion 24896259
nsv1153684 CNV deletion 26484159
nsv455866 CNV loss 19166990
nsv455867 CNV loss 19166990
nsv510333 OTHER sequence alteration 20534489
nsv519614 CNV loss 19592680
nsv523454 CNV loss 19592680
nsv561542 CNV loss 21841781
nsv561543 CNV loss 21841781
nsv819965 CNV loss 19587683
nsv832588 CNV gain 17160897
nsv832589 CNV loss 17160897
nsv832590 CNV gain 17160897
nsv9070 CNV gain 18304495
nsv958130 CNV deletion 24416366
nsv976109 CNV duplication 23825009

Variation tolerance for DGKH Gene

Residual Variation Intolerance Score: 37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.83; 83.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DGKH Gene

Human Gene Mutation Database (HGMD)
DGKH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DGKH
Leiden Open Variation Database (LOVD)
DGKH

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DGKH Gene

Disorders for DGKH Gene

MalaCards: The human disease database

(3) MalaCards diseases for DGKH Gene - From: COP and GCD

Disorder Aliases PubMed IDs
bipolar disorder
  • bipolar depression
nephrolithiasis
  • kidney stones
disease of mental health
  • mental health
- elite association - COSMIC cancer census association via MalaCards
Search DGKH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DGKH

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DGKH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DGKH Gene

Publications for DGKH Gene

  1. Diacylglycerol kinase eta augments C-Raf activity and B-Raf/C-Raf heterodimerization. (PMID: 19710016) Yasuda S … Sakane F (The Journal of biological chemistry 2009) 3 4 22
  2. 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. (PMID: 19818381) Manchia M … Del Zompo M (Neuroscience letters 2009) 3 22 40
  3. No association between DGKH and bipolar disorder in a Scandinavian case-control sample. (PMID: 19478689) Tesli M … Djurovic S (Psychiatric genetics 2009) 3 22 40
  4. A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder. (PMID: 17486107) Baum AE … McMahon FJ (Molecular psychiatry 2008) 3 22 40
  5. Identification and characterization of two splice variants of human diacylglycerol kinase eta. (PMID: 12810723) Murakami T … Kanoh H (The Journal of biological chemistry 2003) 3 4 22

Products for DGKH Gene

Sources for DGKH Gene