LRTM2

Chr 12

leucine rich repeat transmembrane protein 2

NCBI Gene: 654429 ENSG00000166159 UniProt: Q8N967 OMIM: 621359

The LRTM2 protein is predicted to positively regulate synapse assembly and localize to cellular membranes. Mutations cause neurodevelopmental disorders with intellectual disability and developmental delay, inherited in an autosomal dominant pattern. This gene is highly constrained against loss-of-function variants (pLI = 0.87, LOEUF = 0.43), suggesting intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq

Predicted to be involved in cell adhesion. Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jun 2026]

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

0.43

LOEUF

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Mechanism