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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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DAGLA
diacylglycerol lipase alpha
Chromosome 11 Β· 11q12.2
NCBI Gene: 747Ensembl: ENSG00000134780.11HGNC: HGNC:1165UniProt: Q9Y4D2
29PubMed Papers
22Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
retrograde trans-synaptic signaling by endocannabinoiddiacylglycerol catabolic processpostsynaptic density membraneearly endosome membranebenign paroxysmal tonic upgaze of childhood with ataxiaAtaxiacerebellar ataxiaAbnormality of the skeletal system
✦AI Summary

DAGLA encodes diacylglycerol lipase alpha, a serine hydrolase that catalyzes the hydrolysis of arachidonic acid-esterified diacylglycerols to produce 2-arachidonoylglycerol (2-AG), the principal endocannabinoid 1. The enzyme preferentially cleaves sn-1 fatty acids from diacylglycerols containing arachidonic acid at the sn-2 position, playing a crucial role in endocannabinoid signaling within the central nervous system 1. DAGLA is essential for regulating 2-AG-mediated retrograde suppression at synapses and supports neurogenesis and axonal growth. Disease relevance includes truncating variants in DAGLA's last exon causing neuro-ocular syndrome 2, characterized by developmental delay, ataxia, and complex oculomotor abnormalities with paroxysmal nystagmus 1. These variants preserve enzymatic activity but cause perinuclear protein aggregation, suggesting haploinsufficiency or dominant-negative effects 1. Additionally, DAGLA autoantibodies are associated with rapidly progressive cerebellar ataxia and treatment-refractory autoimmune encephalitis 23. Beyond neurological functions, DAGLA promotes hepatocellular carcinoma progression by enhancing YAP activity and induces resistance to lenvatinib therapy 4. The enzyme also exhibits sex-specific roles in astrocytic regulation of hedonic feeding behavior 5.

Sources cited
1
DAGLA produces 2-AG endocannabinoid and truncating variants cause neuro-ocular syndrome with preserved enzymatic activity but protein mislocalization
PMID: 35737950
2
DAGLA autoantibodies are associated with rapidly progressive cerebellar ataxia
PMID: 38663995
3
Anti-DAGLA antibodies cause treatment-refractory autoimmune encephalitis
PMID: 40706586
4
DAGLA promotes hepatocellular carcinoma progression and lenvatinib resistance through YAP pathway
PMID: 37414748
5
Astrocytic DAGLA regulates sex-specific hedonic feeding behavior
PMID: 38265773
Disease Associationsβ“˜22
benign paroxysmal tonic upgaze of childhood with ataxiaOpen Targets
0.63Moderate
AtaxiaOpen Targets
0.46Moderate
cerebellar ataxiaOpen Targets
0.46Moderate
Abnormality of the skeletal systemOpen Targets
0.39Weak
congenital nystagmusOpen Targets
0.37Weak
Intellectual disabilityOpen Targets
0.37Weak
major depressive disorderOpen Targets
0.31Weak
muscular diseaseOpen Targets
0.28Weak
autosomal dominant cerebellar ataxiaOpen Targets
0.27Weak
crystal arthropathyOpen Targets
0.24Weak
kidney transplantOpen Targets
0.22Weak
chondrocalcinosisOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
spinocerebellar ataxia type 20Open Targets
0.19Weak
skin cancerOpen Targets
0.15Weak
hypertensionOpen Targets
0.14Weak
response to xenobiotic stimulusOpen Targets
0.14Weak
myopiaOpen Targets
0.13Weak
basal cell carcinomaOpen Targets
0.12Weak
Progressive visual lossOpen Targets
0.12Weak
Neuroocular syndrome 2, paroxysmal typeUniProt
Spinocerebellar ataxia 20UniProt
Pathogenic Variants7
NM_006133.3(DAGLA):c.2389_2410del (p.Ser797fs)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 797
NM_006133.3(DAGLA):c.2401del (p.Arg801fs)Pathogenic
Benign paroxysmal tonic upgaze of childhood with ataxia
β˜…β˜†β˜†β˜†2024β†’ Residue 801
NM_006133.3(DAGLA):c.2551C>T (p.Gln851Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 851
NM_006133.3(DAGLA):c.2484del (p.Glu829fs)Pathogenic
See cases|Benign paroxysmal tonic upgaze of childhood with ataxia
β˜…β˜†β˜†β˜†2023β†’ Residue 829
NM_006133.3(DAGLA):c.2370C>G (p.Tyr790Ter)Pathogenic
Benign paroxysmal tonic upgaze of childhood with ataxia
β˜†β˜†β˜†β˜†2024β†’ Residue 790
NM_006133.3(DAGLA):c.2485G>T (p.Glu829Ter)Pathogenic
Benign paroxysmal tonic upgaze of childhood with ataxia
β˜†β˜†β˜†β˜†2024β†’ Residue 829
NM_006133.3(DAGLA):c.2440G>T (p.Glu814Ter)Pathogenic
Benign paroxysmal tonic upgaze of childhood with ataxia
β˜†β˜†β˜†β˜†2024β†’ Residue 814
View on ClinVar β†—
Related Genes
MGLLProtein interaction97%CNR1Protein interaction97%NAPEPLDProtein interaction93%ABHD6Protein interaction88%GPR55Protein interaction85%ABHD12Protein interaction83%
Tissue Expression6 tissues
Brain
100%
Heart
51%
Bone Marrow
38%
Lung
33%
Ovary
15%
Liver
10%
Gene Interaction Network
Click a node to explore
DAGLAMGLLCNR1NAPEPLDABHD6GPR55ABHD12
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9Y4D2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.30Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.21 [0.15–0.30]
RankingsWhere DAGLA stands among ~20K protein-coding genes
  • #12,133of 20,598
    Most Researched29
  • #3,250of 5,498
    Most Pathogenic Variants7
  • #1,194of 17,882
    Most Constrained (LOEUF)0.30 Β· top 10%
Genes detectedDAGLA
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Diacylglycerol lipase alpha promotes hepatocellular carcinoma progression and induces lenvatinib resistance by enhancing YAP activity.
PMID: 37414748
Cell Death Dis Β· 2023
1.00
2
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
PMID: 35737950
Brain Β· 2022
0.90
3
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.
PMID: 38091987
Am J Hum Genet Β· 2024
0.80
4
Chimeric antigen receptor T cells in treatment-refractory DAGLA antibody-associated encephalitis.
PMID: 40706586
Med Β· 2025
0.70
5
Identification of DAGLA as an autoantibody target in cerebellar ataxia.
PMID: 38663995
J Neurol Neurosurg Psychiatry Β· 2024
0.60