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

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 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
Displaying Records 1 To 4 Of 4 Records
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