ELFN2

Chr 22

extracellular leucine rich repeat and fibronectin type III domain containing 2

Also known as: LRRC62, PPP1R29

NCBI Gene: 114794 ENSG00000166897 UniProt: Q5R3F8

The ELFN2 protein inhibits protein phosphatase 1 (PP1) complexes and is involved in synaptic membrane adhesion and chemical synaptic transmission. Mutations cause neurodevelopmental disorders with intellectual disability, seizures, and behavioral abnormalities, inherited in an autosomal dominant pattern. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to cause significant developmental impacts.

ResearchSummary from RefSeq, UniProt

Predicted to enable signaling receptor activity. Predicted to be involved in chemical synaptic transmission. Predicted to act upstream of or within establishment of protein localization and gene expression. Located in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

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)

—

P/LP submissions

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P/LP missense

0.33

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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