RTN4R

Chr 22

reticulon 4 receptor

Also known as: NGR, NOGOR, NgR1

NCBI Gene: 65078 ENSG00000040608 UniProt: Q9BZR6

This gene encodes a receptor for multiple myelin-associated proteins (reticulon 4, oligodendrocyte myelin glycoprotein, and myelin-associated glycoprotein) that mediates axonal growth inhibition and regulates axon regeneration, neuronal plasticity, and synaptic formation in the central nervous system. Mutations cause autosomal dominant susceptibility to schizophrenia. The gene is highly constrained against loss-of-function variants (pLI 0.96, LOEUF 0.3), suggesting that complete loss of function is likely incompatible with normal development.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes the receptor for reticulon 4, oligodendrocyte myelin glycoprotein and myelin-associated glycoprotein. This receptor mediates axonal growth inhibition and may play a role in regulating axonal regeneration and plasticity in the adult central nervous system. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSchizophrenia

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

0.30

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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