DAGLB

Chr 7

diacylglycerol lipase beta

Also known as: DAGLBETA, KCCR13L

NCBI Gene: 221955 ENSG00000164535 UniProt: Q8NCG7

The protein is a lipase that catalyzes hydrolysis of arachidonic acid-esterified diacylglycerols to produce the endocannabinoid 2-arachidonoylglycerol and plays a key role in regulating inflammatory responses in macrophages and microglia. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities. The gene shows no constraint against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

Enables lipase activity. Involved in arachidonate metabolic process. Located in nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

LOEUF 0.99

Clinical Summary— DAGLB

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

158 VUS of 209 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.99LOEUF

pLI 0.000

Z-score 1.58

OE 0.70 (0.50–0.99)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-1.28Z-score

OE missense 1.18 (1.09–1.27)

484 obs / 411.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.70 (0.50–0.99)

0≤0.351.4

Missense OE?1.18 (1.09–1.27)

0≤0.61.4

Synonymous OE?1.17

0≤1.21.6

LoF obs/exp: 23 / 32.7Missense obs/exp: 484 / 411.0Syn Z: -1.78

ClinVar Variant Classifications

209 submitted variants in ClinVar

ClinVar

Classification Summary

VUS158

Likely Benign13

Benign6

158

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	158	0	0	158
Likely Benign	9	0	4	13
Benign	4	1	1	6
Total	171	1	5	177

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

34 pathogenic / likely-pathogenic (of 57) ClinVar copy-number / structural variants overlap DAGLB — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →