DAGLB
Diacylglycerol Lipase Beta: A Key Enzyme in Endocannabinoid Signaling
Gene Information Card
| Symbol | DAGLB |
|---|---|
| Full Name | Diacylglycerol Lipase Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 221955 ncbi.nlm.nih.gov/gene/221955 |
| Ensembl ID | ENSG00000164576 |
| UniProt ID | Q8NCG7 |
| OMIM ID | 612933 |
| HGNC ID | 28923 |
| Aliases | DAGLβ, DAGLBETA, C7orf18, MGC138290 |
Description
DAGLB encodes diacylglycerol lipase beta (DAGLβ), a membrane-associated serine hydrolase that catalyzes the conversion of diacylglycerol (DAG) to 2-arachidonoylglycerol (2-AG), the most abundant endocannabinoid. DAGLβ is primarily expressed in the brain, immune cells, and liver, and plays a critical role in retrograde synaptic signaling, neuroinflammation, and energy metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuropathic pain | DAGLβ inhibition reduces 2-AG levels, modulating pain signaling | Preclinical studies (PMID: 24413077) |
| Multiple sclerosis | Altered DAGLβ expression in microglia contributes to neuroinflammation | Expression analysis (PMID: 25664913) |
| Obesity and metabolic syndrome | DAGLβ regulates adipocyte differentiation and lipid metabolism | Knockout mouse models (PMID: 27016527) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Adipose tissue | 6.1 | Low |
| Spleen | 4.7 | Low |
| Testis | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HepG2 (hepatocellular carcinoma) | 7.8 | Moderate expression |
| THP-1 (monocyte) | 5.4 | Low expression |
| HeLa (cervical carcinoma) | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | 0.0004 (gnomAD) | Unknown functional effect |
| c.1523G>A (p.Arg508Gln) | Missense | 0.0002 (gnomAD) | Predicted damaging (SIFT) |
| c.1822_1823insA (p.Thr608Asnfs*12) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr608Asnfs*12) lead to truncated protein and loss of lipase activity.
Gain of Function (GOF)
No gain-of-function mutations reported in DAGLB.
Dominant Negative (DN)
No dominant-negative mutations characterized.
View complete mutation data：
Gene Ontology (GO)
| • phospholipase activity (GO:0004620) | • lipid catabolic process (GO:0016042) |
| • vasoconstriction (GO:0042310) | • arachidonic acid secretion (GO:0050482) |
| • renal absorption (GO:0070293) |
Pathways
• Endocannabinoid signaling (Reactome: R-HSA-373753)
• Glycerophospholipid metabolism (KEGG: hsa00564)
• Retrograde endocannabinoid signaling (KEGG: hsa04723)
Protein Summary
Diacylglycerol lipase beta (DAGLβ) is a 672-amino acid integral membrane protein with a conserved serine hydrolase domain. It localizes to the endoplasmic reticulum and plasma membrane, where it produces 2-AG, a key endocannabinoid that activates CB1 and CB2 receptors. DAGLβ is involved in synaptic plasticity, immune modulation, and metabolic regulation. Its structure includes four transmembrane helices and a catalytic triad (Ser-472, Asp-524, His-554).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DAGLB Knockout HEK293 Cell Line | EDJ-KQ8923 | Human | 221955 | Details Get a Quote |
| DAGLB Knockout A-549 Cell Line | EDJ-KQ35270 | Human | 221955 | Details Get a Quote |
| DAGLB Knockout HCT 116 Cell Line | EDJ-KQ35271 | Human | 221955 | Details Get a Quote |
| DAGLB Knockout HeLa Cell Line | EDJ-KQ35272 | Human | 221955 | Details Get a Quote |
