DGKE (diacylglycerol kinase epsilon)

2007-04-01  

Identity

HGNC
LOCATION
17q22
LOCUSID
ALIAS
AHUS7,DAGK5,DAGK6,DGK,NPHS7
FUSION GENES

Other Information

Locus ID:

NCBI: 8526
MIM: 601440
HGNC: 2852
Ensembl: ENSG00000153933

Variants:

dbSNP: 8526
ClinVar: 8526
TCGA: ENSG00000153933
COSMIC: DGKE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000153933ENST00000284061P52429
ENSG00000153933ENST00000284061A1L4Q0
ENSG00000153933ENST00000570738I3L2V2
ENSG00000153933ENST00000572810P52429
ENSG00000153933ENST00000572944I3L112

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Glycerolipid metabolismKEGGko00561
Glycerophospholipid metabolismKEGGko00564
Phosphatidylinositol signaling systemKEGGko04070
Glycerolipid metabolismKEGGhsa00561
Glycerophospholipid metabolismKEGGhsa00564
Phosphatidylinositol signaling systemKEGGhsa04070
Metabolic pathwaysKEGGhsa01100
Choline metabolism in cancerKEGGhsa05231
Choline metabolism in cancerKEGGko05231
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Effects of PIP2 hydrolysisREACTOMER-HSA-114508
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (q) signalling eventsREACTOMER-HSA-416476
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907
Phospholipase D signaling pathwayKEGGko04072
Phospholipase D signaling pathwayKEGGhsa04072

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
235426982013Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.112
232744262013DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.39
236303382013Quantitative properties and receptor reserve of the DAG and PKC branch of G(q)-coupled receptor signaling.34
197449262009Diacylglycerol kinase epsilon is selective for both acyl chains of phosphatidic acid or diacylglycerol.26
254989102015Loss of DGKε induces endothelial cell activation and death independently of complement activation.25
251357622014Complement mutations in diacylglycerol kinase-ε-associated atypical hemolytic uremic syndrome.20
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19
245111342014Phenotypic expansion of DGKE-associated diseases.17
258542832015Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.17
221086542011Substrate specificity of diacylglycerol kinase-epsilon and the phosphatidylinositol cycle.10

Citation

Dessen P

DGKE (diacylglycerol kinase epsilon)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46638/dgke