Gene Gene information from NCBI Gene database.
Entrez ID 8526
Gene name Diacylglycerol kinase epsilon
Gene symbol DGKE
Synonyms (NCBI Gene)
AHUS7DAGK5DAGK6DGKNPHS7
Chromosome 17
Chromosome location 17q22
Summary 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.
15
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.
863
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004143 Function ATP-dependent diacylglycerol kinase activity IBA
GO:0004143 Function ATP-dependent diacylglycerol kinase activity IDA 15544348, 18004883, 19744926, 22108654
GO:0004143 Function ATP-dependent diacylglycerol kinase activity IEA
GO:0004143 Function ATP-dependent diacylglycerol kinase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601440 2852 ENSG00000153933
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Atypical hemolytic-uremic syndrome Likely pathogenic; Pathogenic rs764747885, rs312262699, rs312262696, rs138924661, rs1340500871, rs1907143128, rs1064797074, rs777787526, rs147972030, rs1555599211, rs312262694 RCV005864586
RCV000122614
RCV000122616
RCV000122617
RCV005864602
View all (7 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DGKE-related disorder Likely pathogenic rs1567825026 RCV003396363
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemolytic uremic syndrome, atypical, susceptibility to, 1 Pathogenic rs1906529223 RCV001250397
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemolytic uremic syndrome, atypical, susceptibility to, 7 Pathogenic; Likely pathogenic rs312262699, rs138924661, rs312262694 RCV000043568
RCV000043567
RCV000043569
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATYPICAL HEMOLYTIC UREMIC SYNDROME CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atypical hemolytic-uremic syndrome with DGKE deficiency Uncertain significance ClinVar
ClinGen, GWAS catalog
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alternating hemiplegia of childhood Alternating hemiplegia of childhood Pubtator 33879077 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 33663605 Associate
★☆☆☆☆
Found in Text Mining only
Anemia, Hemolytic, Acquired Anemia CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 31481522
★☆☆☆☆
Found in Text Mining only
Atypical Hemolytic Uremic Syndrome Hemolytic Uremic Syndrome CTD_human_DG 23542698
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome Hemolytic uremic syndrome Pubtator 23542698, 24511134, 25498910, 25854283, 29500241, 30377230, 32091318, 32386968, 32838746, 36755127 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome Hemolytic Uremic Syndrome BEFREE 23619787, 23743117, 24511134, 25135762, 25599621, 25854283, 27177491, 27374918, 28199087, 30905589
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome Hemolytic Uremic Syndrome CLINVAR_DG 24511134
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome Hemolytic Uremic Syndrome GENOMICS_ENGLAND_DG 28526779
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism Pubtator 28526779 Associate
★☆☆☆☆
Found in Text Mining only