Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8526
Gene name Gene Name - the full gene name approved by the HGNC.
Diacylglycerol kinase epsilon
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DGKE
Synonyms (NCBI Gene) Gene synonyms aliases
AHUS7, DAGK5, DAGK6, DGK, NPHS7
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AHUS7, NPHS7
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q22
Summary Summary of gene provided in NCBI Entrez 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 arachidony
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs138924661 G>A Likely-pathogenic, pathogenic, risk-factor Coding sequence variant, non coding transcript variant, stop gained
rs147972030 A>-,AA Pathogenic Non coding transcript variant, frameshift variant, coding sequence variant
rs312262695 G>A,C,T Risk-factor, likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs312262696 G>A Likely-pathogenic, pathogenic Splice acceptor variant
rs312262697 C>T Likely-pathogenic Non coding transcript variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT039816 hsa-miR-615-3p CLASH 23622248
MIRT724241 hsa-miR-548ae-3p HITS-CLIP 19536157
MIRT724240 hsa-miR-548ah-3p HITS-CLIP 19536157
MIRT724239 hsa-miR-548aj-3p HITS-CLIP 19536157
MIRT724238 hsa-miR-548am-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003951 Function NAD+ kinase activity IEA
GO:0004143 Function Diacylglycerol kinase activity IBA 21873635
GO:0004143 Function Diacylglycerol kinase activity IDA 15544348, 18004883, 19744926, 22108654
GO:0005524 Function ATP binding IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601440 2852 ENSG00000153933
Protein
UniProt ID P52429
Protein name Diacylglycerol kinase epsilon (DAG kinase epsilon) (EC 2.7.1.107) (Diglyceride kinase epsilon) (DGK-epsilon)
Protein 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:21477596, PubMed:22108654,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00130 C1_1 60 109 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00781 DAGK_cat 219 347 Diacylglycerol kinase catalytic domain Family
PF00609 DAGK_acc 369 524 Diacylglycerol kinase accessory domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in testis. Expressed in endothelium, platelets and podocytes (at protein level). {ECO:0000269|PubMed:23542698}.
Sequence
MEAERRPAPGSPSEGLFADGHLILWTLCSVLLPVFITFWCSLQRSRRQLHRRDIFRKSKH
GWRDTDLFSQPTYCCVCAQHILQGAFCDCCGLRVDEGCLRKADKRFQCK
EIMLKNDTKVL
DAMPHHWIRGNVPLCSYCMVCKQQCGCQPKLCDYRCIWCQKTVHDECMKNSLKNEKCDFG
EFKNLIIPPSYLTSINQMRKDKKTDYEVLASKLGKQWTPLIILANSRSGTNMGEGLLGEF
RILLNPVQVFDVTKTPPIKALQLCTLLPYYSARVLVCGGDGTVGWVLDAVDDMKIKGQEK
YIPQVAVLPLGTGNDLSNTLGWGTGYAGEIPVAQVLRNVMEADGIKL
DRWKVQVTNKGYY
NLRKPKEFTMNNYFSVGPDALMALNFHAHREKAPSLFSSRILNKAVYLFYGTKDCLVQEC
KDLNKKVELELDGERVALPSLEGIIVLNIGYWGGGCRLWEGMGDETYPLARHDDGLLEVV
GVYGSFHCAQIQVKLANPFRIGQAHTVRLILKCSMMPMQVDGEP
WAQGPCTVTITHKTHA
MMLYFSGEQTDDDISSTSDQEDIKATE
Sequence length 567
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycerolipid metabolism
Glycerophospholipid metabolism
Metabolic pathways
Phosphatidylinositol signaling system
Phospholipase D signaling pathway
Choline metabolism in cancer
  Effects of PIP2 hydrolysis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Hemolytic, Acquired rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Glomerulonephritis Glomerulonephritis rs778043831
Hemolytic uremic syndrome Hemolytic-Uremic Syndrome, Atypical Hemolytic Uremic Syndrome, Hemolytic uremic syndrome with DGKE deficiency rs398124292, rs121964913, rs33972593, rs460897, rs121909590, rs121909583, rs460184, rs104886189, rs312262697, rs312262698, rs312262696, rs138924661, rs869312973, rs886039869, rs886039868
View all (24 more)
25854283, 28526779, 23542698, 24511134
Unknown
Disease term Disease name Evidence References Source
C3 glomerulopathy C3 glomerulopathy 28526779 ClinVar
Hemolytic Uremic Syndrome atypical hemolytic-uremic syndrome with DGKE deficiency GenCC
Associations from Text Mining
Disease Name Relationship Type References
Alternating hemiplegia of childhood Associate 33879077
Alzheimer Disease Associate 33663605
Atypical Hemolytic Uremic Syndrome Associate 23542698, 24511134, 25498910, 25854283, 29500241, 30377230, 32091318, 32386968, 32838746, 36755127
Autistic Disorder Associate 28526779
Colorectal Neoplasms Associate 39930364
Coronary Artery Disease Associate 36088434
COVID 19 Associate 39521879
Depressive Disorder Associate 22348086
Diabetes Mellitus Type 2 Associate 22348086
Genetic Diseases Inborn Associate 22348086, 28056875