ADGRL3

Chr 4

adhesion G protein-coupled receptor L3

Also known as: CIRL3, CL3, LEC3, LPHN3

NCBI Gene: 23284 ENSG00000150471 UniProt: Q9HAR2 OMIM: 616417

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.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.18

LOEUF· LoF intol.

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Mechanism