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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DGKD
diacylglycerol kinase delta
Chromosome 2 · 2q37.1
NCBI Gene: 8527Ensembl: ENSG00000077044.12HGNC: HGNC:2851UniProt: Q16760
46PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
KinaseTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ATP-dependent diacylglycerol kinase activitylipid phosphorylationprotein bindingclathrin-coated pitnephrolithiasistype 2 diabetes mellitusurolithiasisneurodegenerative disease
✦AI Summary

DGKD (diacylglycerol kinase delta) is a lipid kinase that catalyzes the phosphorylation of diacylglycerol (DAG) to phosphatidic acid (PA), functioning as a molecular switch between distinct signaling pathways with opposing biological effects 12. By regulating DAG levels, DGKD modulates PKC and EGF receptor signaling and may regulate clathrin-dependent endocytosis 3. DGKD serves as a critical calcium-sensing receptor (CaSR) signaling partner 4. In kidney stone disease (KSD) pathogenesis, DGKD genetic variants impair CaSR signal transduction, affecting calcium and phosphate homeostasis; reduced DGKD expression correlates with increased urinary calcium excretion and elevated KSD risk 54. Pharmacological CaSR modulation via cinacalcet can rescue impaired signaling caused by KSD-associated DGKD variants, suggesting potential therapeutic strategies 54. DGKD variants have been investigated in Parkinson disease with inconsistent population-specific associations 6. DGKD is implicated in malignant meningioma progression and pediatric acute lymphoblastic leukemia through novel fusion gene formation (SFMBT2::DGKD) 78. Additionally, DGKD expression relates to sepsis-induced cardiomyopathy pathogenesis 9.

Sources cited
1
DGKD converts DAG into PA and regulates bioactive lipid levels
PMID: 12200442
2
DGKD converts DAG into PA and regulates bioactive lipid levels
PMID: 23949095
3
DGKD may regulate clathrin-dependent endocytosis
PMID: 17880279
4
DGKD is a CaSR signaling partner; KSD-associated DGKD variants impair CaSR signaling; reduced DGKD expression affects calcium homeostasis; cinacalcet rescues variant-induced signaling defects
PMID: 40372791
5
DGKD variants influence CaSR signaling; DGKD knockdown impairs CaSR signal transduction; DGKD-associated locus correlates with urinary calcium excretion in nephrolithiasis; cinacalcet rectifies signaling defects
PMID: 31729369
6
DGKD SNPs show no significant association with Parkinson disease in Han Chinese population
PMID: 22406787
7
DGKD is associated with malignant meningioma progression
PMID: 37024523
8
SFMBT2::DGKD is a novel fusion gene detected in pediatric acute lymphoblastic leukemia
PMID: 37469802
9
DGKD is a hub choline metabolism gene associated with sepsis-induced cardiomyopathy
PMID: 39637364
Disease Associationsⓘ20
nephrolithiasisOpen Targets
0.48Moderate
type 2 diabetes mellitusOpen Targets
0.47Moderate
urolithiasisOpen Targets
0.43Moderate
neurodegenerative diseaseOpen Targets
0.42Moderate
bladder calculusOpen Targets
0.40Weak
ureterolithiasisOpen Targets
0.36Weak
alcohol drinkingOpen Targets
0.35Weak
Pathologic fractureOpen Targets
0.34Weak
Varicose veinsOpen Targets
0.33Weak
hypertensionOpen Targets
0.31Weak
diabetes mellitusOpen Targets
0.31Weak
Hallux valgusOpen Targets
0.30Weak
rheumatic diseaseOpen Targets
0.28Weak
disease of peritoneumOpen Targets
0.24Weak
Increased blood pressureOpen Targets
0.24Weak
response to xenobiotic stimulusOpen Targets
0.22Weak
lymphatic system diseaseOpen Targets
0.21Weak
vein disorderOpen Targets
0.21Weak
dilated cardiomyopathyOpen Targets
0.12Weak
Ewing sarcomaOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DGAT1Protein interaction100%MBOAT2Protein interaction94%MOGAT1Protein interaction91%PNPLA2Protein interaction91%GPD2Protein interaction82%GNPATProtein interaction81%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
96%
Ovary
57%
Heart
45%
Liver
26%
Brain
21%
Gene Interaction Network
Click a node to explore
DGKDDGAT1MBOAT2MOGAT1PNPLA2GPD2GNPAT
PROTEIN STRUCTURE
Preparing viewer…
PDB3BQ7 · 2.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.55Moderately Constrained
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.45 [0.36–0.55]
RankingsWhere DGKD stands among ~20K protein-coding genes
  • #9,318of 20,598
    Most Researched46
  • #3,501of 17,882
    Most Constrained (LOEUF)0.55 · top quartile
Genes detectedDGKD
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic variants predisposing to an increased risk of kidney stone disease.
PMID: 40372791
J Clin Invest · 2025
1.00
2
Genetic susceptibility to kidney stone disease: unveiling pathogenesis and potential therapeutic targets.
PMID: 40759569
J Clin Invest · 2025
0.90
3
Genetic variants of calcium and vitamin D metabolism in kidney stone disease.
PMID: 31729369
Nat Commun · 2019
0.80
4
Analysis of the genotype of diacylglycerol kinase delta single-nucleotide polymorphisms in Parkinson disease in the Han Chinese population.
PMID: 22406787
Neurol India · 2012
0.70
5
Prognostic factors and Doxorubicin involved in malignant progression of meningioma.
PMID: 37024523
Sci Rep · 2023
0.60