Skip to content
GenoLensGenoLens

DGKE

Chr 17q22

diacylglycerol kinase epsilon

Aliases:
DAGK6, DGK
MANE:
ENST00000284061.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Atypical haemolytic uraemic syndrome

    BIALLELIC, autosomal or pseudoautosomal
  • Membranoproliferative glomerulonephritis including C3 glomerulopathy

    BIALLELIC, autosomal or pseudoautosomal
  • Proteinuric renal disease

    BIALLELIC, autosomal or pseudoautosomal
  • Unexplained kidney failure in young people

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • immunoglobulin-mediated membranoproliferative glomerulonephritis

    0.79
  • atypical hemolytic-uremic syndrome

    0.66
  • atypical hemolytic-uremic syndrome with DGKE deficiency

    0.64
  • membranoproliferative glomerulonephritis

    0.62
  • neurodegenerative disease

    0.52
  • complement 3 glomerulopathy

    0.46
  • hemolytic-uremic syndrome

    0.45
  • atypical hemolytic-uremic syndrome with C3 anomaly

    0.37
  • osteoarthritis, hip

    0.31
  • total hip arthroplasty

    0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Diacylglycerol kinase epsilon

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:21477596, PubMed:22108654, 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:15544348, PubMed:8626589). 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)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.