COLQ

Chr 3p25.1

collagen like tail subunit of asymmetric acetylcholinesterase

Aliases:: EAD
MANE:: ENST00000383788.10

OMIM: 603033 ↗NCBI: 8292 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

COLQ · Q9Y215

v62025-08-01

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

Mean pLDDT

54.5/ 100

Low

455 residues

Confidence breakdown

Very high(≥ 90)2%
Confident(70–90)12%
Low(50–70)44%
Very low(< 50)42%

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
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Congenital myasthenic syndromes
0.79
Synaptic congenital myasthenic syndromes
0.67
congenital myasthenic syndrome
0.56
Abnormality of the musculature
0.49
diverticular disease
0.45
synaptic congenital myasthenic syndrome
0.37
diverticulitis
0.31
response to antihypertensive drug
0.28
Alzheimer disease
0.24
digestive system disorder
0.22

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

Protein function (UniProt)

Acetylcholinesterase collagenic tail peptide

Anchors the catalytic subunits of asymmetric AChE to the synaptic basal membrane, and is therefore involved in the down-regulation of colinergic synaptic transmission