COLQ Gene: Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase
Genetic insights into COLQ: structure, function, and clinical significance in congenital myasthenic syndrome
Gene Information Card
| Symbol | COLQ |
|---|---|
| Full Name | collagen like tail subunit of asymmetric acetylcholinesterase |
| Gene Type | protein coding |
| Chromosomal Location | 3p25.1 |
| NCBI Gene ID | 8292 ncbi.nlm.nih.gov/gene/8292 |
| Ensembl ID | ENSG00000114315 |
| UniProt ID | Q9Y215 |
| OMIM ID | 603033 |
| HGNC ID | 2226 |
| Aliases | AChE-Q, CMS5, EAD, OTTHUMP00000019756 |
Description
The COLQ gene encodes the collagen-like tail subunit of asymmetric acetylcholinesterase (AChE), a key enzyme at the neuromuscular junction. This subunit anchors the catalytic subunits to the basal lamina, ensuring efficient acetylcholine hydrolysis. Mutations in COLQ lead to congenital myasthenic syndrome type 5 (CMS5), characterized by endplate AChE deficiency and impaired neuromuscular transmission.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| Congenital myasthenic syndrome type 5 (CMS5) | Loss-of-function mutations in COLQ disrupt the collagen tail, preventing proper anchoring of AChE to the synaptic basal lamina, leading to reduced AChE activity and prolonged acetylcholine action at the neuromuscular junction. | ClinVar, OMIM |
| Congenital myasthenic syndrome (general) | COLQ mutations are a known cause of CMS, with clinical features including muscle weakness, fatigability, and respiratory insufficiency. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Skeletal muscle | High | High |
| Brain | Low | Low |
| Heart | Low | Low |
| Liver | Not detected | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| Skeletal muscle cells (e.g., C2C12) | High | Differentiated myotubes show high COLQ expression |
| Neuroblastoma cells (e.g., SH-SY5Y) | Low | Low expression in neuronal cell lines |
| HEK293 | Not detected | No significant expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| c.1082delC (p.Pro361LeufsTer13) | Frameshift | Rare | Loss of function, premature truncation |
| c.1195C>T (p.Arg399Ter) | Nonsense | Rare | Loss of function, premature stop codon |
| c.244C>T (p.Arg82Cys) | Missense | Rare | Likely affects collagen triple helix stability |
| c.457G>A (p.Gly153Arg) | Missense | Rare | Disrupts collagen-like domain, impairing subunit assembly |
Mutation functional classification
Loss of Function (LOF)
Most COLQ mutations are loss-of-function, leading to reduced or absent collagen tail, preventing AChE anchoring and causing CMS5.
Gain of Function (GOF)
No gain-of-function mutations reported for COLQ.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with the assembly of the collagen tail, but this is not well established.
View complete mutation data：
Gene Ontology (GO)
| • acetylcholinesterase activity | • collagen trimer |
| • extracellular matrix | • neuromuscular junction |
| • synaptic basal lamina | • protein binding |
Pathways
• Acetylcholine signaling at neuromuscular junction
• Collagen biosynthesis and modification
• Extracellular matrix organization
Protein Summary
The COLQ protein is a collagen-like tail subunit that forms a triple-helical structure, anchoring acetylcholinesterase (AChE) to the basal lamina of the neuromuscular junction. It is essential for clustering AChE at the synapse and ensuring rapid acetylcholine hydrolysis. The protein contains a proline-rich region and a collagen-like domain, which are critical for its structural role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COLQ Knockout HEK293 Cell Line | EDJ-KQ6190 | Human | 8292 | Details Get a Quote |
| COLQ Knockout HCT 116 Cell Line | EDJ-KQ30025 | Human | 8292 | Details Get a Quote |
| COLQ Knockout HeLa Cell Line | EDJ-KQ54848 | Human | 8292 | Details Get a Quote |
| COLQ Knockout A-549 Cell Line | EDJ-KQ63337 | Human | 8292 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
