DGKQ Gene: Diacylglycerol Kinase Theta – Function, Disease Associations, and Expression
Comprehensive biomedical overview of DGKQ (diacylglycerol kinase theta), including gene card, expression, mutations, and pathways.
Gene Information Card
| Symbol | DGKQ |
|---|---|
| Full Name | diacylglycerol kinase theta |
| Gene Type | protein coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 1609 ncbi.nlm.nih.gov/gene/1609 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | O75955 |
| OMIM ID | 601931 |
| HGNC ID | 2857 |
| Aliases | DAGK4, DGK theta, diacylglycerol kinase 4 |
Description
DGKQ encodes diacylglycerol kinase theta, an enzyme that phosphorylates diacylglycerol (DAG) to produce phosphatidic acid (PA). This conversion regulates intracellular levels of DAG, a key second messenger involved in cell signaling, proliferation, and differentiation. DGKQ is a member of the type II diacylglycerol kinase family and contains a pleckstrin homology (PH) domain, a cysteine-rich region, and a catalytic domain. It is implicated in various cellular processes, including immune response, neuronal signaling, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered DGKQ expression affects DAG/PA signaling, influencing cell growth and survival. | COSMIC: somatic mutations and copy number changes in multiple cancer types. |
| Immunodeficiency | DGKQ regulates T-cell receptor signaling; dysregulation may impair immune responses. | UniProt: functional studies in immune cells. |
| Neurological disorders | DGKQ is expressed in brain; altered DAG metabolism may contribute to neurological phenotypes. | OMIM: potential involvement in intellectual disability (limited evidence). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 5.1 | Low |
| Kidney | 6.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| A549 | 7.8 | Lung carcinoma |
| MCF7 | 6.5 | Breast cancer |
| K562 | 9.1 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | 0.01% (COSMIC) | Potential kinase activity alteration |
| c.567_568insC (frameshift) | Insertion | 0.005% (COSMIC) | Loss of function |
| c.890C>T (p.Thr297Met) | Missense | 0.02% (COSMIC) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Frameshift and truncating mutations are predicted to result in loss of kinase activity, leading to reduced PA production and altered DAG signaling.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported; some missense variants may increase activity but evidence is limited.
Dominant Negative (DN)
Certain missense mutations in the catalytic domain may exert dominant-negative effects by competing with wild-type enzyme, but this is speculative.
View complete mutation data：
Gene Ontology (GO)
| • diacylglycerol kinase activity | • ATP binding |
| • zinc ion binding | • signal transduction |
| • phospholipid metabolic process | • intracellular signal transduction |
Pathways
• Diacylglycerol (DAG) signaling
• Phosphatidylinositol signaling system
• T-cell receptor signaling pathway
• VEGF signaling pathway
Protein Summary
DGKQ is a 110 kDa protein that localizes to the cytosol and membranes. It contains a conserved catalytic domain, a PH domain, and two cysteine-rich domains. The enzyme converts DAG to PA, thereby terminating DAG-mediated signaling and initiating PA-mediated signaling. DGKQ is highly expressed in the brain and immune cells, suggesting roles in synaptic transmission and immune regulation. Its activity is regulated by phosphorylation and interaction with lipids. Dysregulation of DGKQ has been linked to cancer and immune dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DGKQ Knockout HEK293 Cell Line | EDJ-KQ1698 | Human | 1609 | Details Get a Quote |
| DGKQ Knockout A-549 Cell Line | EDJ-KQ21513 | Human | 1609 | Details Get a Quote |
| DGKQ Knockout HCT 116 Cell Line | EDJ-KQ21514 | Human | 1609 | Details Get a Quote |
| DGKQ Knockout HeLa Cell Line | EDJ-KQ21515 | Human | 1609 | Details Get a Quote |
| DGKQ Knockout Hep-G2 Cell Line | EDJ-KZ183 | Human | 1609 | Details Get a Quote |
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