DAGLA
Chr 11ADdiacylglycerol lipase alpha
Also known as: C11orf11, DAGL(ALPHA), DAGLALPHA, NOC2, NSDDR
The protein is a diacylglycerol lipase that synthesizes 2-arachidonoylglycerol, the principal endocannabinoid involved in synaptic signaling and neuronal development in the central nervous system. Mutations cause neuroocular syndrome 2, paroxysmal type, inherited in an autosomal dominant pattern. This gene is highly constrained against loss-of-function mutations (pLI = 1.0, LOEUF = 0.17), indicating that complete loss of protein function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
192 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 5 | 0 | 7 | 0 | 12 |
Likely Pathogenic | 3 | 0 | 3 | 0 | 6 |
VUS | 9 | 102 | 3 | 0 | 114 |
Likely Benign | 0 | 10 | 3 | 19 | 32 |
Benign | 0 | 3 | 1 | 6 | 10 |
Conflicting | — | 1 | |||
| Total | 17 | 115 | 17 | 25 | 175 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DAGLA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools