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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DGKB
diacylglycerol kinase beta
Chromosome 7 · 7p21.2
NCBI Gene: 1607Ensembl: ENSG00000136267.14HGNC: HGNC:2850UniProt: B5MBY2
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lipid phosphorylationATP-dependent diacylglycerol kinase activitylipid bindingglycerolipid metabolic processtype 2 diabetes mellitusdiabetes mellitusdiverticular diseaseAbnormality of the skeletal system
✦AI Summary

DGKB (diacylglycerol kinase beta) is a cytosolic ATP-dependent enzyme that catalyzes phosphorylation of diacylglycerol (DAG) to phosphatidic acid, playing a central role in lipid metabolism and intracellular signaling 1. The enzyme regulates intracellular DAG concentration and influences fatty acid oxidation, with functional relevance in mitochondrial lipid homeostasis 1. Genetically, DGKB variants are robustly associated with glycemic regulation and type 2 diabetes risk. DGKB/TMEM195 locus variants correlate with decreased glucose-stimulated beta cell insulin secretion and impaired glucose homeostasis in population studies 23. Expression quantitative trait loci (eQTL) analysis in pancreatic islets identified DGKB as a colocalized gene variant influencing both T2D susceptibility and glycemic traits 4. Additionally, DGKB rs12666606 shows pleiotropic association with endometriosis and depression through shared genetic mechanisms 5. Clinically, DGKB dysfunction has been implicated in radioresistance in glioblastoma; downregulation promotes tumor cell survival through altered lipid metabolism 1. DGKB variants also associate with peripheral blood stem cell mobilization efficiency, suggesting roles in hematopoietic cell migration 6. Skeletal abnormalities including copy number variations in the ETV1-DGKB region have been associated with osteoporosis pathology 7. These findings position DGKB as a metabolic regulator with multisystem clinical relevance.

Sources cited
1
DGKB regulates intracellular DAG concentration and influences fatty acid oxidation and mitochondrial lipotoxicity; downregulation confers radioresistance in glioblastoma
PMID: 36603576
2
DGKB-TMEM195 locus associated with fasting glucose and type 2 diabetes risk
PMID: 20081858
3
DGKB/TMEM195 variants associated with decreased glucose-stimulated insulin release and beta cell function
PMID: 20419449
4
DGKB identified as colocalized cis-eQTL with T2D risk variants in pancreatic islets
PMID: 32999275
5
DGKB rs12666606 shows pleiotropic association between endometriosis and depression
PMID: 36652249
6
DGKB SNP associated with efficiency of hematopoietic stem cell mobilization to peripheral blood
PMID: 27839966
7
ETV1-DGKB copy number variations associated with skeletal pathologies and osteoporosis
PMID: 36795294
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.54Moderate
diabetes mellitusOpen Targets
0.53Moderate
diverticular diseaseOpen Targets
0.49Moderate
Abnormality of the skeletal systemOpen Targets
0.44Moderate
mathematical abilityOpen Targets
0.43Moderate
atrial fibrillationOpen Targets
0.43Moderate
glucose metabolism diseaseOpen Targets
0.38Weak
diabetic neuropathyOpen Targets
0.34Weak
alcohol drinkingOpen Targets
0.33Weak
open-angle glaucomaOpen Targets
0.32Weak
self-injurious ideationOpen Targets
0.32Weak
diabetic retinopathyOpen Targets
0.31Weak
adolescent idiopathic scoliosisOpen Targets
0.31Weak
portal hypertensionOpen Targets
0.29Weak
hypertensionOpen Targets
0.28Weak
malunion fractureOpen Targets
0.28Weak
glaucomaOpen Targets
0.28Weak
femur fractureOpen Targets
0.28Weak
HypernatremiaOpen Targets
0.28Weak
systemic lupus erythematosusOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DGKAShared pathway100%PLCG2Protein interaction96%CDS2Protein interaction95%PLD2Protein interaction94%MBOAT2Protein interaction94%LPLProtein interaction91%
Tissue Expression6 tissues
Brain
100%
Heart
4%
Liver
2%
Ovary
1%
Lung
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
DGKBDGKAPLCG2CDS2PLD2MBOAT2LPL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y6T7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.76LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.54 [0.40–0.76]
RankingsWhere DGKB stands among ~20K protein-coding genes
  • #9,995of 20,598
    Most Researched41
  • #6,017of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedDGKB
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Epidemiologic and Genetic Associations of Endometriosis With Depression, Anxiety, and Eating Disorders.
PMID: 36652249
JAMA Netw Open · 2023
1.00
2
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
PMID: 20081858
Nat Genet · 2010
0.90
3
GCK, GCKR, FADS1, DGKB/TMEM195 and CDKAL1 Gene Polymorphisms in Women with Gestational Diabetes.
PMID: 28359772
Can J Diabetes · 2017
0.80
4
Copy Number Variation and Osteoporosis.
PMID: 36795294
Curr Osteoporos Rep · 2023
0.70
5
DGKB mediates radioresistance by regulating DGAT1-dependent lipotoxicity in glioblastoma.
PMID: 36603576
Cell Rep Med · 2023
0.60