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] See more...

Aliases for DGKE Gene

Aliases for DGKE Gene

  • Diacylglycerol Kinase Epsilon 2 3 4 5
  • Diacylglycerol Kinase, Epsilon 64kDa 2 3
  • Diglyceride Kinase Epsilon 3 4
  • DAG Kinase Epsilon 3 4
  • EC 2.7.1.107 4 50
  • DGK-Epsilon 3 4
  • DAGK5 3 4
  • DAGK6 2 3
  • DGK 2 3
  • Diacylglycerol Kinase, Epsilon (64kD) 2
  • AHUS7 3
  • NPHS7 3
  • DGKE 5

External Ids for DGKE Gene

Previous GeneCards Identifiers for DGKE Gene

  • GC17P054648
  • GC17P057392
  • GC17P055253
  • GC17P055386
  • GC17P052266
  • GC17P054911
  • GC17P050271

Summaries for DGKE Gene

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) is a Protein Coding gene. Diseases associated with DGKE include Nephrotic Syndrome, Type 7 and Hemolytic-Uremic Syndrome. 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 DGKE Gene

  • Membrane-bound diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:15544348, PubMed:19744926, PubMed:22108654, PubMed:21477596, 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 (PubMed:8626589, PubMed:15544348). Also plays an important role in the biosynthesis of complex lipids (PubMed:8626589). Displays specificity for diacylglycerol substrates with an arachidonoyl acyl chain at the sn-2 position, with the highest activity toward 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol the main diacylglycerol intermediate within the phosphatidylinositol turnover cycle (PubMed:19744926, PubMed:22108654, PubMed:23274426). Can also phosphorylate diacylglycerol substrates with a linoleoyl acyl chain at the sn-2 position but much less efficiently (PubMed:22108654).

Tocris Summary for DGKE 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 CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DGKE Gene

Genomics for DGKE Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DGKE Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the DGKE gene promoter:
  • aMEF-2
  • AREB6
  • FOXO3
  • FOXO3a
  • FOXO3b
  • HEN1
  • MEF-2A
  • MIF-1
  • NRF-2
  • RFX1

Genomic Locations for DGKE Gene

Latest Assembly
chr17:56,834,107-56,869,567
(GRCh38/hg38)
Size:
35,461 bases
Orientation:
Plus strand

Previous Assembly
chr17:54,911,512-54,946,928
(GRCh37/hg19 by Entrez Gene)
Size:
35,417 bases
Orientation:
Plus strand

chr17:54,911,460-54,946,036
(GRCh37/hg19 by Ensembl)
Size:
34,577 bases
Orientation:
Plus strand

Genomic View for DGKE Gene

Genes around DGKE on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DGKE Gene

Proteins for DGKE Gene

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

    Protein Symbol:
    P52429-DGKE_HUMAN
    Recommended name:
    Diacylglycerol kinase epsilon
    Protein Accession:
    P52429
    Secondary Accessions:
    • Q8TBM4
    • Q9UKQ3

    Protein attributes for DGKE Gene

    Size:
    567 amino acids
    Molecular mass:
    63927 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DGKE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DGKE Gene

Selected DME Specific Peptides for DGKE Gene

P52429:
  • CGGDGTVGW
  • PLGTGNDL
  • PMQVDGE

Post-translational modifications for DGKE Gene

  • Ubiquitination at Lys357
  • Modification sites at PhosphoSitePlus

Domains & Families for DGKE Gene

Gene Families for DGKE Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DGKE Gene

Suggested Antigen Peptide Sequences for DGKE Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ75840, highly similar to Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA (A1L4Q0_HUMAN)
  • Diglyceride kinase epsilon (DGKE_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P52429

UniProtKB/Swiss-Prot:

DGKE_HUMAN :
  • Belongs to the eukaryotic diacylglycerol kinase family.
Family:
  • Belongs to the eukaryotic diacylglycerol kinase family.
genes like me logo Genes that share domains with DGKE: view

Function for DGKE Gene

Molecular function for DGKE Gene

UniProtKB/Swiss-Prot Function:
Membrane-bound diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:15544348, PubMed:19744926, PubMed:22108654, PubMed:21477596, 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 (PubMed:8626589, PubMed:15544348). Also plays an important role in the biosynthesis of complex lipids (PubMed:8626589). Displays specificity for diacylglycerol substrates with an arachidonoyl acyl chain at the sn-2 position, with the highest activity toward 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol the main diacylglycerol intermediate within the phosphatidylinositol turnover cycle (PubMed:19744926, PubMed:22108654, PubMed:23274426). Can also phosphorylate diacylglycerol substrates with a linoleoyl acyl chain at the sn-2 position but much less efficiently (PubMed:22108654).
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:15544348, ECO:0000269|PubMed:18004883, ECO:0000269|PubMed:19744926, ECO:0000269|PubMed:21477596, ECO:0000269|PubMed:22108654, ECO:0000269|PubMed:23949095};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol + ATP = 1-hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:40335, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:72864, ChEBI:CHEBI:77096, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:19744926};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol + ATP = 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:40323, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:75728, ChEBI:CHEBI:77091, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:15544348, ECO:0000269|PubMed:18004883, ECO:0000269|PubMed:19744926, ECO:0000269|PubMed:21477596, ECO:0000269|PubMed:22108654, ECO:0000269|PubMed:23949095};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-eicosanoyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycerol + ATP = 1-eicosanoyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:40331, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:77093, ChEBI:CHEBI:77094, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:19744926};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-di-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycerol + ATP = 1,2-di-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:40351, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:77125, ChEBI:CHEBI:77126, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:22108654};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-octadecanoyl-2-(9Z,12Z)-octadecadienoyl-sn-glycerol + ATP = 1-octadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:40339, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:77097, ChEBI:CHEBI:77098, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:19744926, ECO:0000269|PubMed:22108654};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-di-(9Z,12Z-octadecadienoyl)-sn-glycerol + ATP = 1,2-di-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:40355, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:77127, ChEBI:CHEBI:77128, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:22108654};.
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:15544348, ECO:0000269|PubMed:19744926};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Undergoes competitive inhibition by its own product 1,2-diacyl-sn-glycero-3-phosphate/phosphatidic acid. The strongest inhibition being observed in vitro with 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphate, a major intermediate in the phosphatidylinositol turnover cycle and more generally by diacylglycerols with an arachidonoyl acyl chain at the sn-2 position.
GENATLAS Biochemistry:
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 Numbers (IUBMB) for DGKE Gene

Phenotypes From GWAS Catalog for DGKE Gene

Gene Ontology (GO) - Molecular Function for DGKE 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 IEA,IDA 15544348
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA,IDA 18004883
genes like me logo Genes that share ontologies with DGKE: view
genes like me logo Genes that share phenotypes with DGKE: view

Human Phenotype Ontology for DGKE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DGKE Gene

MGI Knock Outs for DGKE:

Animal Models for research

  • Taconic Biosciences Mouse Models for DGKE

miRNA for DGKE Gene

miRTarBase miRNAs that target DGKE

Inhibitory RNAs for research

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

No data available for Transcription Factor Targets and HOMER Transcription for DGKE Gene

Localization for DGKE Gene

Subcellular locations from UniProtKB/Swiss-Prot for DGKE Gene

Membrane. Single-pass membrane protein. Cytoplasm.

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 DGKE gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 4
extracellular 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
peroxisome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DGKE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 23542698
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA,IDA 19744926
genes like me logo Genes that share ontologies with DGKE: view

Pathways & Interactions for DGKE Gene

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

UniProtKB/Swiss-Prot P52429-DGKE_HUMAN

  • Pathway: Lipid metabolism; glycerolipid metabolism.

Gene Ontology (GO) - Biological Process for DGKE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006654 phosphatidic acid biosynthetic process IDA 15544348
GO:0006661 phosphatidylinositol biosynthetic process IEA --
GO:0007165 signal transduction IEA --
GO:0007205 protein kinase C-activating G protein-coupled receptor signaling pathway IEA --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with DGKE: view

No data available for SIGNOR curated interactions for DGKE Gene

Drugs & Compounds for DGKE Gene

(6) Drugs for DGKE Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

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

(27) Additional Compounds for DGKE Gene - From: HMDB and Novoseek

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 DGKE Gene

Compound Action Cas Number
Dioctanoylglycol Diacylglycerol kinase inhibitor 627-86-1
R 59-022 Diacylglycerol kinase inhibitor; increases PKC activity 93076-89-2

(1) ApexBio Compounds for DGKE Gene

Compound Action Cas Number
Dioctanoylglycol 627-86-1
genes like me logo Genes that share compounds with DGKE: view

Drug products for research

Transcripts for DGKE Gene

mRNA/cDNA for DGKE Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 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 DGKE

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

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

Relevant External Links for DGKE Gene

GeneLoc Exon Structure for
DGKE

Expression for DGKE Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DGKE Gene

This gene is overexpressed in Retina (45.5) and Testis (9.1).

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



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

SOURCE GeneReport for Unigene cluster for DGKE Gene:

Hs.239514

mRNA Expression by UniProt/SwissProt for DGKE Gene:

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

Evidence on tissue expression from TISSUES for DGKE Gene

  • Heart(4.3)
  • Nervous system(2.5)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DGKE Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • respiratory
  • urinary
Regions:
Thorax:
  • lung
Abdomen:
  • kidney
Pelvis:
  • urinary bladder
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with DGKE: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for DGKE Gene

Orthologs for DGKE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DGKE Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DGKE 29 30
  • 99.35 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DGKE 29 30
  • 91.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DGKE 29 30
  • 90.96 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dgke 29 16 30
  • 87.23 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DGKE 30
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DGKE 30
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DGKE 29 30
  • 77.11 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DGKE 30
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dgke 29
  • 72.7 (n)
Zebrafish
(Danio rerio)
Actinopterygii dgke 29 30
  • 68.09 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006768 29
  • 49.09 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Dgkepsilon 29 30
  • 48.26 (n)
OneToOne
Dgk&egr; 31
  • 37 (a)
Worm
(Caenorhabditis elegans)
Secernentea dgk-2 29 30 31
  • 48.7 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons DGK1 29
  • 47.29 (n)
Rice
(Oryza sativa)
Liliopsida Os12g0576900 29
  • 47.77 (n)
Species where no ortholog for DGKE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DGKE Gene

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

Paralogs for DGKE Gene

Paralogs for DGKE Gene

(2) SIMAP similar genes for DGKE Gene using alignment to 5 proteins:

  • DGKE_HUMAN
  • A1L4Q0_HUMAN
  • I3L112_HUMAN
  • I3L2V2_HUMAN
  • Q8TBM4_HUMAN
genes like me logo Genes that share paralogs with DGKE: view

Variants for DGKE Gene

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

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1032142 Uncertain Significance: Nephrotic syndrome, type 7 56,835,098(+) G/C
NM_003647.3(DGKE):c.303G>C (p.Lys101Asn)
MISSENSE
1032143 Uncertain Significance: Nephrotic syndrome, type 7 56,848,802(+) T/C
NM_003647.3(DGKE):c.995T>C (p.Val332Ala)
MISSENSE
812509 Pathogenic: Atypical hemolytic-uremic syndrome 1 56,835,239(+) AC/A
NM_003647.3(DGKE):c.447del (p.Lys150fs)
FRAMESHIFT
812708 Likely Pathogenic: Atypical hemolytic-uremic syndrome 1 56,848,749(+) C/G
NM_003647.3(DGKE):c.942C>G (p.Asn314Lys)
MISSENSE
988188 Likely Pathogenic: Atypical hemolytic uremic syndrome 56,834,796(+) A/T
NM_003647.3(DGKE):c.1A>T (p.Met1Leu)
INITIATIOR_CODON_VARIANT,MISSENSE

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

Variant ID Type Subtype PubMed ID
esv2658087 CNV deletion 23128226
esv32884 CNV loss 17666407
nsv1142226 CNV tandem duplication 24896259
nsv833495 CNV loss 17160897

Variation tolerance for DGKE Gene

Residual Variation Intolerance Score: 16.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.30; 41.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DGKE Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for DGKE Gene

MalaCards: The human disease database

(17) MalaCards diseases for DGKE Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
nephrotic syndrome, type 7
  • nphs7
hemolytic-uremic syndrome
  • haemolytic-uraemic syndrome
hemolytic uremic syndrome, atypical 1
  • hemolytic uremic syndrome, atypical, susceptibility to, 1
dense deposit disease
  • ddd
membranoproliferative glomerulonephritis
  • chronic glomerulonephritis, lobular
- elite association - COSMIC cancer census association via MalaCards
Search DGKE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DGKE_HUMAN
  • 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. {ECO:0000269 PubMed:23274426}. Note=The disease is caused by variants 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. {ECO:0000269 PubMed:23542698}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Additional Disease Information for DGKE

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform