GAREM2

Chr 2

GRB2 associated regulator of MAPK1 subtype 2

Also known as: FAM59B, GAREML

NCBI Gene: 150946 ENSG00000157833 UniProt: Q75VX8 OMIM: 617999

The protein functions as an adapter that links epidermal growth factor receptor to the MAPK/ERK signaling pathway and is predicted to regulate cognition, neuron projection extension, and social behavior. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and behavioral abnormalities. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.49), suggesting intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to act upstream of or within several processes, including cognition; neuron projection extension; and social behavior. [provided by Alliance of Genome Resources, Jul 2025]

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

0.49

LOEUF

GOF

Mechanism· predicted