CHRNE

Chr 17p13.2

cholinergic receptor nicotinic epsilon subunit

Aliases:: ACHRE
MANE:: ENST00000649488.2

OMIM: 100725 ↗NCBI: 1145 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CHRNE · Q04844

v62025-08-01

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

Mean pLDDT

80.7/ 100

Confident

493 residues

Confidence breakdown

Very high(≥ 90)31%
Confident(70–90)48%
Low(50–70)17%
Very low(< 50)5%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myaesthenic syndrome
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

Congenital myasthenic syndromes
0.82
Postsynaptic congenital myasthenic syndromes
0.71
congenital myasthenic syndrome
0.58
Bernard-Soulier syndrome
0.58
platelet-type von Willebrand disease
0.55
muscle cramp
0.53
Muscle spasm
0.53
Optic neuropathy
0.52
Abnormality of the musculature
0.50
Macrothrombocytopenia
0.47

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

Protein function (UniProt)

Acetylcholine receptor subunit epsilon

After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane