DGKB: Diacylglycerol Kinase Beta
A key regulator of diacylglycerol signaling in immune and neuronal cells
Gene Information Card
| Symbol | DGKB |
|---|---|
| Full Name | Diacylglycerol Kinase Beta |
| Gene Type | protein-coding |
| Chromosomal Location | 7p21.2 |
| NCBI Gene ID | 1607 ncbi.nlm.nih.gov/gene/1607 |
| Ensembl ID | ENSG00000106536 |
| UniProt ID | Q9Y6T7 |
| OMIM ID | 604070 |
| HGNC ID | 2851 |
| Aliases | DGK, DAGK2, DGKbeta, KIAA0718 |
Description
DGKB encodes diacylglycerol kinase beta, an enzyme that phosphorylates diacylglycerol (DAG) to phosphatidic acid, thereby regulating DAG-mediated signaling. It is involved in immune cell activation, neuronal plasticity, and insulin secretion. Alternative splicing yields multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bipolar disorder | Altered DAG signaling in neurons may contribute to mood dysregulation | PMID: 20691405 |
| Type 2 diabetes | DGKB variants associated with impaired insulin secretion | PMID: 20081858 |
| Schizophrenia | DGKB expression changes in prefrontal cortex | PMID: 21743477 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Pancreas | 8.7 | Low |
| Spleen | 6.2 | Low |
| Testis | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.0 | Neuronal model |
| Jurkat | 22.5 | T-cell line |
| HEK293 | 3.2 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124G>A (p.Gly42Arg) | Missense | <0.01% | Unknown |
| c.856C>T (p.Arg286Trp) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not reported in COSMIC or ClinVar for DGKB
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data:
Gene Ontology (GO)
| • diacylglycerol kinase activity (GO:0004143) | • protein kinase C-activating G protein-coupled receptor signaling pathway (GO:0007205) |
| • phosphorylation (GO:0016310) | • metal ion binding (GO:0046872) |
Pathways
• Diacylglycerol kinase pathway
• Glycerophospholipid metabolism
• VEGF signaling pathway
Protein Summary
Diacylglycerol kinase beta (DGKβ) is a 90 kDa protein containing a catalytic domain and two C1 domains that bind DAG. It converts DAG to phosphatidic acid, terminating DAG signaling and modulating PKC activity. DGKβ is highly expressed in brain and immune cells, and its dysregulation is linked to neuropsychiatric and metabolic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DGKB Knockout HEK293 Cell Line | EDJ-KQ1696 | Human | 1607 | Details Get a Quote |
| DGKB Knockout HeLa Cell Line | EDJ-KQ53066 | Human | 1607 | Details Get a Quote |
| DGKB Knockout A-549 Cell Line | EDJ-KQ61532 | Human | 1607 | Details Get a Quote |
| DGKB Knockout HCT 116 Cell Line | EDJ-KQ70025 | Human | 1607 | Details Get a Quote |
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