DGKH Gene - Diacylglycerol Kinase Eta
Comprehensive gene resource for DGKH: function, expression, mutations, and disease associations
Gene Information Card
| Symbol | DGKH |
|---|---|
| Full Name | Diacylglycerol kinase eta |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 160851 ncbi.nlm.nih.gov/gene/160851 |
| Ensembl ID | ENSG00000102760 |
| UniProt ID | Q86XP1 |
| OMIM ID | 609415 |
| HGNC ID | 2859 |
| Aliases | DGKeta, DAG kinase eta, diacylglycerol kinase eta |
Description
DGKH (diacylglycerol kinase eta) 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. DGKH is involved in signal transduction, cell proliferation, and synaptic transmission. Genetic variants in DGKH have been associated with bipolar disorder and other psychiatric conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bipolar disorder | Altered DAG/PA signaling in neuronal cells may affect synaptic plasticity and mood regulation. | Multiple genome-wide association studies (GWAS) have linked DGKH SNPs to bipolar disorder risk. |
| Schizophrenia | DGKH expression changes may disrupt lipid signaling pathways implicated in neurodevelopment. | Reported in GWAS meta-analyses; functional studies ongoing. |
| Major depressive disorder | Potential role via DAG-mediated signaling in the hippocampus. | Limited evidence from candidate gene studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 8.3 | Low |
| Testis | 6.7 | Low |
| Adipose tissue | 4.2 | Low |
| Heart | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.2 | Neuronal model |
| HEK293 (embryonic kidney) | 5.8 | Low expression |
| HepG2 (liver) | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1170191 | SNP | 0.35 (global) | Intronic; associated with bipolar disorder in GWAS |
| rs9315885 | SNP | 0.28 (global) | Intronic; risk allele for bipolar disorder |
| c.1246G>A (p.Gly416Arg) | Missense | <0.01 | Rare variant; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in DGKH.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
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) | • signal transduction (GO:0007165) |
Pathways
• Diacylglycerol kinase pathway (Reactome: R-HSA-1483206)
• Phosphatidylinositol phosphate metabolism (KEGG: hsa00564)
• G protein-coupled receptor signaling (Reactome: R-HSA-372790)
Protein Summary
DGKH encodes diacylglycerol kinase eta, a 567-amino acid protein that converts diacylglycerol (DAG) to phosphatidic acid (PA). It contains a DAG/phorbol ester binding domain (C1 domain) and a catalytic domain. DGKH is predominantly expressed in brain and testis, and plays a role in regulating DAG levels for protein kinase C activation and other signaling pathways. The protein is membrane-associated and involved in neuronal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DGKH Knockout HEK293 Cell Line | EDJ-KQ1047 | Human | 160851 | Details Get a Quote |
| DGKH Knockout A-549 Cell Line | EDJ-KQ21507 | Human | 160851 | Details Get a Quote |
| DGKH Knockout HCT 116 Cell Line | EDJ-KQ21509 | Human | 160851 | Details Get a Quote |
| DGKH Knockout HeLa Cell Line | EDJ-KQ21510 | Human | 160851 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
