ADGRL3

Chr 4

adhesion G protein-coupled receptor L3

This gene encodes an adhesion G-protein coupled receptor that mediates synapse specificity and promotes glutamatergic synapse formation, particularly in the hippocampus and cortex. Mutations cause autosomal dominant neurodevelopmental disorders including intellectual disability and attention deficit hyperactivity disorder. The gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.18
Clinical SummaryADGRL3
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.18LOEUF
pLI 1.000
Z-score 6.73
OE 0.09 (0.050.18)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.67Z-score
OE missense 0.73 (0.680.79)
578 obs / 788.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.09 (0.050.18)
00.351.4
Missense OE0.73 (0.680.79)
00.61.4
Synonymous OE1.01
01.21.6
LoF obs/exp: 6 / 64.1Missense obs/exp: 578 / 788.9Syn Z: -0.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ADGRL3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
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