DGKE Chromosome 17
Diacylglycerol kinase epsilon
Upload your DNA to see your personal genotypes for variants in DGKE.
What This Gene Does
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]
Gene Info
Gene Group
Diacylglycerol kinases
Locus Type
gene with protein product
Location
17q22
Ensembl
ENSG00000153933
Associated Conditions (12)
Atypical hemolytic-uremic syndrome
Kidney disorder
DGKE-related disorder
Mesangiocapillary glomerulonephritis
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Hemolytic uremic syndrome
atypical
susceptibility to
1
7
Nephrotic syndrome
Hemolytic-uremic syndrome
Key Variants
RS144417124
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
Health Risk
RS146866423
Conflicting classifications of pathogenicity
Kidney disorder, DGKE-related disorder, Mesangiocapillary glomerulonephritis
Health Risk
RS202084326
Conflicting classifications of pathogenicity
Kidney disorder, DGKE-related disorder, Kidney disorder
Health Risk
RS2144181161
Conflicting classifications of pathogenicity
Immunoglobulin-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated membranoproliferative glomerulonephritis
Health Risk
RS61751972
Conflicting classifications of pathogenicity
DGKE-related disorder, Immunoglobulin-mediated membranoproliferative glomerulonephritis, Mesangiocapillary glomerulonephritis
Health Risk
RS749415630
Conflicting classifications of pathogenicity
Hemolytic uremic syndrome, atypical, susceptibility to
Health Risk
RS1060499709
Likely pathogenic
Immunoglobulin-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated membranoproliferative glomerulonephritis
Health Risk
RS1482608926
Likely pathogenic
Immunoglobulin-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated membranoproliferative glomerulonephritis
Health Risk
RS1567825026
Likely pathogenic
Immunoglobulin-mediated membranoproliferative glomerulonephritis, DGKE-related disorder, Immunoglobulin-mediated membranoproliferative glomerulonephritis
Health Risk
RS2509301277
Likely pathogenic
Health Risk
RS312262694
Likely pathogenic
Hemolytic uremic syndrome, atypical, susceptibility to
Health Risk
RS755230915
Likely pathogenic
Immunoglobulin-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated membranoproliferative glomerulonephritis
Health Risk
All Variants (38)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144417124 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome |
| RS146866423 | Health Risk | Conflicting classifications of pathogenicity | Kidney disorder, DGKE-related disorder, Mesangiocapillary glomerulonephritis |
| RS202084326 | Health Risk | Conflicting classifications of pathogenicity | Kidney disorder, DGKE-related disorder, Kidney disorder |
| RS2144181161 | Health Risk | Conflicting classifications of pathogenicity | Immunoglobulin-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated membranoproliferative glomerulonephritis |
| RS61751972 | Health Risk | Conflicting classifications of pathogenicity | DGKE-related disorder, Immunoglobulin-mediated membranoproliferative glomerulonephritis, Mesangiocapillary glomerulonephritis |
| RS749415630 | Health Risk | Conflicting classifications of pathogenicity | Hemolytic uremic syndrome, atypical, susceptibility to |
| RS1060499709 | Health Risk | Likely pathogenic | Immunoglobulin-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated membranoproliferative glomerulonephritis |
| RS1482608926 | Health Risk | Likely pathogenic | Immunoglobulin-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated membranoproliferative glomerulonephritis |
| RS1567825026 | Health Risk | Likely pathogenic | Immunoglobulin-mediated membranoproliferative glomerulonephritis, DGKE-related disorder, Immunoglobulin-mediated membranoproliferative glomerulonephritis |
| RS2509301277 | Health Risk | Likely pathogenic | — |
| RS312262694 | Health Risk | Likely pathogenic | Hemolytic uremic syndrome, atypical, susceptibility to |
| RS755230915 | Health Risk | Likely pathogenic | Immunoglobulin-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated membranoproliferative glomerulonephritis |
| RS1064797074 | Health Risk | Likely pathogenic/Pathogenic, low penetrance | Immunoglobulin-mediated membranoproliferative glomerulonephritis, Atypical hemolytic-uremic syndrome, Immunoglobulin-mediated membranoproliferative glomerulonephritis |
| RS1060499708 | Health Risk | Pathogenic | Immunoglobulin-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated membranoproliferative glomerulonephritis |
| RS1169050578 | Health Risk | Pathogenic | — |
| RS1214440741 | Health Risk | Pathogenic | Immunoglobulin-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated membranoproliferative glomerulonephritis |
| RS138924661 | Health Risk | Pathogenic | Hemolytic uremic syndrome, atypical, susceptibility to |
| RS1462738297 | Health Risk | Pathogenic | — |
| RS147972030 | Health Risk | Pathogenic | Immunoglobulin-mediated membranoproliferative glomerulonephritis, Nephrotic syndrome, Atypical hemolytic-uremic syndrome |
| RS1555599211 | Health Risk | Pathogenic | Hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome, Hemolytic-uremic syndrome |
| RS1598043201 | Health Risk | Pathogenic | Immunoglobulin-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated membranoproliferative glomerulonephritis |
| RS1906529223 | Health Risk | Pathogenic | Hemolytic uremic syndrome, atypical, susceptibility to |
| RS2509284743 | Health Risk | Pathogenic | — |
| RS2509299260 | Health Risk | Pathogenic | — |
| RS312262696 | Health Risk | Pathogenic | Atypical hemolytic-uremic syndrome, Immunoglobulin-mediated membranoproliferative glomerulonephritis, Atypical hemolytic-uremic syndrome |
| RS312262699 | Health Risk | Pathogenic | Hemolytic uremic syndrome, atypical, susceptibility to |
| RS398123008 | Health Risk | Pathogenic | Immunoglobulin-mediated membranoproliferative glomerulonephritis, Mesangiocapillary glomerulonephritis, Immunoglobulin-mediated membranoproliferative glomerulonephritis |
| RS777787526 | Health Risk | Pathogenic | Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome |
| RS879255231 | Health Risk | Pathogenic | Immunoglobulin-mediated membranoproliferative glomerulonephritis, Mesangiocapillary glomerulonephritis, Immunoglobulin-mediated membranoproliferative glomerulonephritis |
| RS915029037 | Health Risk | Pathogenic | — |
| RS148605410 | Health Risk | Pathogenic, low penetrance | Hemolytic uremic syndrome, atypical, susceptibility to |
| RS1906465563 | Health Risk | Pathogenic, low penetrance | Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome |
| RS312262697 | Health Risk | Pathogenic, low penetrance | Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome |
| RS312262698 | Health Risk | Pathogenic, low penetrance | Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome |
| RS762576212 | Health Risk | Pathogenic, low penetrance | Immunoglobulin-mediated membranoproliferative glomerulonephritis, Atypical hemolytic-uremic syndrome, Immunoglobulin-mediated membranoproliferative glomerulonephritis |
| RS1907143128 | Health Risk | Pathogenic/Likely pathogenic | Immunoglobulin-mediated membranoproliferative glomerulonephritis, Atypical hemolytic-uremic syndrome, Immunoglobulin-mediated membranoproliferative glomerulonephritis |
| RS764747885 | Health Risk | Pathogenic/Likely pathogenic | Immunoglobulin-mediated membranoproliferative glomerulonephritis, Atypical hemolytic-uremic syndrome, Mesangiocapillary glomerulonephritis |
| RS1340500871 | Health Risk | Pathogenic/Pathogenic, low penetrance | Immunoglobulin-mediated membranoproliferative glomerulonephritis, Atypical hemolytic-uremic syndrome, Immunoglobulin-mediated membranoproliferative glomerulonephritis |