CHRNG

Chr 2q37.1

cholinergic receptor nicotinic gamma subunit

MANE:: ENST00000651502.1

OMIM: 100730 ↗NCBI: 1146 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

CHRNG · P07510

v62025-08-01

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

Mean pLDDT

81.3/ 100

Confident

517 residues

Confidence breakdown

Very high(≥ 90)46%
Confident(70–90)34%
Low(50–70)11%
Very low(< 50)9%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Clefting
BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive multiple pterygium syndrome
0.81
lethal multiple pterygium syndrome
0.78
Muscle spasm
0.53
muscle cramp
0.53
hereditary disease
0.50
CHRNG-associated hypo-akinesia disorder of prenatal onset
0.41
Abnormality of prenatal development or birth
0.34
scoliosis
0.33
rheumatoid arthritis
0.33
Arthrogryposis-like hand anomaly
0.33

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

Protein function (UniProt)

Acetylcholine receptor subunit gamma

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