DGKD Gene - Diacylglycerol Kinase Delta
Comprehensive gene information for DGKD, including function, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | DGKD |
|---|---|
| Full Name | Diacylglycerol Kinase Delta |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 8527 ncbi.nlm.nih.gov/gene/8527 |
| Ensembl ID | ENSG00000115904 |
| UniProt ID | Q16760 |
| OMIM ID | 601826 |
| HGNC ID | 2855 |
| Aliases | DGK-delta, DAGK5, KIAA0145 |
Description
DGKD (Diacylglycerol Kinase Delta) encodes a member of the type II diacylglycerol kinase family. The enzyme phosphorylates diacylglycerol (DAG) to phosphatidic acid (PA), regulating intracellular levels of these lipid second messengers. DGKD is involved in signal transduction, cell proliferation, and differentiation. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered DGKD expression may disrupt DAG/PA signaling, affecting cell growth and migration. | NCBI Gene, COSMIC |
| Hepatocellular carcinoma | Downregulation of DGKD observed in tumor tissues, potentially promoting proliferation. | COSMIC, PubMed studies |
| Colorectal cancer | DGKD mutations and expression changes linked to tumor progression. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 14.2 | Medium |
| Heart | 8.5 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.3 | Low |
| Testis | 20.1 | High |
| Lung | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| HepG2 | 7.2 | Hepatocellular carcinoma cells |
| A549 | 6.5 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown functional effect |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Likely loss of function |
| c.2345G>A (p.Arg782His) | Missense | <0.01% | Reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely lead to truncated protein and loss of kinase activity.
Gain of Function (GOF)
Not well characterized; some missense variants may alter substrate specificity.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • diacylglycerol kinase activity (GO:0004143) | • protein kinase C-activating G protein-coupled receptor signaling pathway (GO:0007205) |
| • membrane (GO:0016020) | • cytoplasm (GO:0005737) |
| • phospholipid metabolic process (GO:0006644) |
Pathways
• Diacylglycerol kinase pathway
• Phosphatidylinositol signaling system
• Glycerophospholipid metabolism
Protein Summary
Diacylglycerol kinase delta (DGKD) is a 130 kDa protein that converts diacylglycerol to phosphatidic acid. It contains a conserved catalytic domain and regulatory regions including PH and C1 domains. DGKD localizes to the plasma membrane and cytosol, and its activity modulates signaling pathways such as PKC and Ras. The protein is expressed in multiple tissues with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DGKD Knockout HEK293 Cell Line | EDJ-KQ1692 | Human | 8527 | Details Get a Quote |
| DGKD Knockout A-549 Cell Line | EDJ-KQ21499 | Human | 8527 | Details Get a Quote |
| DGKD Knockout HCT 116 Cell Line | EDJ-KQ21500 | Human | 8527 | Details Get a Quote |
| DGKD Knockout HeLa Cell Line | EDJ-KQ21501 | Human | 8527 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
