Gene
COLQ
collagen like tail subunit of asymmetric acetylcholinesterase
- HGNC 2226(opens in a new tab)
- Ensembl gene ENSG00000206561(opens in a new tab)
- NCBI Gene 8292(opens in a new tab)
Summary
- Cytogenetic location
- 3p25.1
- Coordinates
- Chromosome 3: 15,450,133–15,521,706 (GRCh38)
- Exons
- 17 exons across 71.6 kb
- Protein
- 455 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- EAD
- MANE Select transcript
- ENST00000383788.10NM_005677.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Congenital Myasthenic Syndrome
- Congenital Myasthenic Syndrome 5Autosomal recessive
Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.
- 2 GenCC submitters rate it definitive or strong
- Congenital Myasthenic Syndrome (All Types)
Umbrella term covering all congenital myasthenic syndromes, including the common CHRNE, RAPSN, DOK7 and MUSK forms.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Many forms respond to specific medications such as pyridostigmine, salbutamol or ephedrine, and the right choice depends on the gene involved.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How COLQ is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3 kb of the gene's 71.6 kb; 1,368 of those bases code for the protein.
How a genome test reads COLQ
94
positions in COLQ where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 71.6 kb of COLQ, introns included, not only the 3 kb of exons.
Traits linked to COLQ
The Human Phenotype Ontology lists these as features of the rare conditions COLQ can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
- Fatigable weakness
- Type 1 muscle fiber predominance
- Type 2 muscle fiber atrophy
- Generalized muscle weakness
- Proximal neurogenic muscle weakness
- Low muscle tone
- Muscle tissue disease
Show 13 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). COLQ gene: collagen like tail subunit of asymmetric acetylcholinesterase. Retrieved 17 October 2026, from https://dantelabs.com/genes/colq
Dante Labs. COLQ gene: collagen like tail subunit of asymmetric acetylcholinesterase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/colq
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