REEP2

Chr 5

receptor accessory protein 2

Also known as: C5orf19, SGC32445, SPG72, SPG72A, SPG72B, Yip2d

NCBI Gene: 51308 ENSG00000132563 UniProt: Q9BRK0

The REEP2 protein is required for endoplasmic reticulum network formation, shaping and remodeling, and may enhance cell surface expression of odorant receptors. Mutations cause spastic paraplegia 72, which can follow either autosomal dominant or autosomal recessive inheritance patterns. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.549), suggesting some tolerance to protein-truncating mutations.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the receptor expression enhancing protein family. Studies of a related gene in mouse suggest that the encoded protein is found in the cell membrane and enhances the function of sweet taste receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpastic paraplegia 72A, autosomal dominant

UniProtSpastic paraplegia 72B, autosomal recessive

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

0.55

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — REEP2