DGKI Gene - Diacylglycerol Kinase Iota
Comprehensive gene card for DGKI (diacylglycerol kinase iota) including genomic annotation, expression, mutations, and disease associations.
Gene Information Card
| Symbol | DGKI |
|---|---|
| Full Name | Diacylglycerol kinase iota |
| Gene Type | protein-coding |
| Chromosomal Location | 7q33 |
| NCBI Gene ID | 9162 ncbi.nlm.nih.gov/gene/9162 |
| Ensembl ID | ENSG00000157680 |
| UniProt ID | O75912 |
| OMIM ID | 604071 |
| HGNC ID | 2856 |
| Aliases | DGK-iota, DAGK5, DAGK6 |
Description
DGKI (diacylglycerol kinase iota) encodes a member of the type II diacylglycerol kinase family. The enzyme phosphorylates diacylglycerol (DAG) to phosphatidic acid, regulating intracellular DAG levels and modulating signaling pathways such as PKC and RasGRP. DGKI is involved in cell proliferation, differentiation, and synaptic function. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bipolar disorder | Altered DAG signaling may affect neuronal excitability and mood regulation | PMID: 18470944 |
| Schizophrenia | DGKI variants associated with risk in GWAS studies | PMID: 25056061 |
| Cancer (general) | Dysregulation of DAG kinases can influence tumor growth and metastasis | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 4.1 | Low |
| Heart | 2.0 | Not detected |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.2 | Neuronal model |
| HEK293 (embryonic kidney) | 6.8 | Common cell line |
| A549 (lung carcinoma) | 4.5 | Lung cancer model |
| MCF7 (breast cancer) | 3.1 | Breast cancer model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature truncation, likely loss of function |
| c.567G>A (p.Met189Ile) | Missense | 0.02% | Unknown functional effect |
| c.890_891insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants in DGKI are predicted to cause loss of function by truncating the protein or disrupting the catalytic domain.
Gain of Function (GOF)
No gain-of-function mutations have been reported for DGKI.
Dominant Negative (DN)
No dominant-negative mutations have been described for DGKI.
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) |
| • signal transduction (GO:0007165) |
Pathways
• Diacylglycerol kinase pathway (Reactome: R-HSA-426048)
• Phosphatidylinositol signaling system (KEGG: hsa04070)
Protein Summary
DGKI (diacylglycerol kinase iota) is a 130 kDa protein containing a catalytic domain, two EF-hand motifs, and a pleckstrin homology domain. It localizes to the plasma membrane and cytosol. The enzyme converts DAG to phosphatidic acid, thereby terminating DAG signaling and modulating PKC and RasGRP pathways. DGKI is highly expressed in brain and testis, and its dysregulation is implicated in neuropsychiatric disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DGKI Knockout HEK293 Cell Line | EDJ-KQ1693 | Human | 9162 | Details Get a Quote |
| DGKI Knockout HeLa Cell Line | EDJ-KQ55095 | Human | 9162 | Details Get a Quote |
| DGKI Knockout A-549 Cell Line | EDJ-KQ63575 | Human | 9162 | Details Get a Quote |
| DGKI Knockout HCT 116 Cell Line | EDJ-KQ72041 | Human | 9162 | Details Get a Quote |
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