RTN2

Chr 19q13.32

reticulon 2

Aliases:: NSP2, NSPL1
MANE:: ENST00000245923.9

OMIM: 603183 ↗NCBI: 6253 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RTN2 · O75298

v62025-08-01

Predicted Aligned Error matrix for RTN2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

51.2/ 100

Low

545 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)15%
Low(50–70)28%
Very low(< 50)58%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset hereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

hereditary spastic paraplegia 12
0.71
Autosomal dominant spastic paraplegia type 12
0.71
neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity
0.57
Spastic paraplegia
0.53
distal hereditary motor neuropathy
0.51
Lower limb spasticity
0.46
hereditary disease
0.19
hereditary spastic paraplegia
0.19
gastric cancer
0.08
gastric ulcer
0.08

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

Protein function (UniProt)

Reticulon-2

Inhibits amyloid precursor protein processing, probably by blocking BACE1 activity (PubMed:15286784). Enhances trafficking of the glutamate transporter SLC1A1/EAAC1 from the endoplasmic reticulum to the cell surface (By similarity). Plays a role in the translocation of SLC2A4/GLUT4 from intracellular membranes to the cell membrane which facilitates the uptake of glucose into the cell (By similarity)