REEP2

Chr 5q31.2

receptor accessory protein 2

Aliases:: SGC32445, SPG72, Yip2d
MANE:: ENST00000378339.7

OMIM: 609347 ↗NCBI: 51308 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

REEP2 · Q9BRK0

v62025-08-01

Predicted Aligned Error matrix for REEP2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.5/ 100

Low

252 residues

Confidence breakdown

Very high(≥ 90)10%
Confident(70–90)33%
Low(50–70)23%
Very low(< 50)34%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset hereditary spastic paraplegia
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary spastic paraplegia
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

Autosomal recessive spastic paraplegia type 72
0.70
hereditary spastic paraplegia 72
0.70
atrial fibrillation
0.45
spastic paraplegia 72b, autosomal recessive
0.43
hypertensive disorder
0.30
heart disorder
0.23
hereditary disease
0.19
type 2 diabetes mellitus
0.08
Abnormality of the skeletal system
0.07
smoking initiation
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Receptor expression-enhancing protein 2

Required for endoplasmic reticulum (ER) network formation, shaping and remodeling. May enhance the cell surface expression of odorant receptors (By similarity)