ADGRL2

Chr 1

adhesion G protein-coupled receptor L2

Also known as: CIRL2, CL2, LEC1, LPHH1, LPHN2

NCBI Gene: 23266 ENSG00000117114 UniProt: O95490 OMIM: 607018

The protein is an adhesion G-protein coupled receptor that mediates synapse specificity by associating with cell adhesion molecules to direct synapse formation, particularly in hippocampal perforant-path synapses. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and autism spectrum features. This gene is highly constrained against loss-of-function variants, indicating that such variants are likely to be pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors. The encoded protein participates in the regulation of exocytosis. The proprotein is thought to be further cleaved within a cysteine-rich G-protein-coupled receptor proteolysis site into two chains that are non-covalently bound at the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

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

0.11

LOEUF· LoF intol.

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Mechanism