REPS2

Chr X

RALBP1 associated Eps domain containing 2

Also known as: POB1

NCBI Gene: 9185 ENSG00000169891 UniProt: Q8NFH8 OMIM: 300317

The REPS2 protein regulates endocytosis of growth factor receptors including EGF and insulin receptors, controlling receptor internalization and downstream signaling pathways that affect cell survival, adhesion, and migration. Mutations cause autosomal recessive intellectual disability with microcephaly and seizures, typically presenting in early childhood. The gene is moderately constrained against loss-of-function variants (LOEUF 0.486), suggesting some intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

The product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors. The encoded protein directly interacts with a GTPase activating protein that functions downstream of the small G protein Ral. Its expression can negatively affect receptor internalization and inhibit growth factor signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [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

0.49

LOEUF

GOF

Mechanism· predicted