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Aliases for COLQ Gene

Aliases for COLQ Gene

  • Collagen-Like Tail Subunit (Single Strand Of Homotrimer) Of Asymmetric Acetylcholinesterase 2 3
  • Acetylcholinesterase-Associated Collagen 2 3 4
  • AChE Q Subunit 2 3 4
  • Single Strand Of Homotrimeric Collagen-Like Tail Subunit Of Asymmetric Acetylcholinesterase 2 3
  • Collagenic Tail Of Endplate Acetylcholinesterase 2 3
  • EAD 3 6
  • Acetylcholinesterase Collagenic Tail Peptide 3

External Ids for COLQ Gene

Previous GeneCards Identifiers for COLQ Gene

  • GC03M015420
  • GC03M015466
  • GC03M015491
  • GC03M015426

Summaries for COLQ Gene

Entrez Gene Summary for COLQ Gene

  • This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for COLQ Gene

COLQ (Collagen-Like Tail Subunit (Single Strand Of Homotrimer) Of Asymmetric Acetylcholinesterase) is a Protein Coding gene. Diseases associated with COLQ include endplate acetylcholinesterase deficiency and colq-related congenital myasthenic syndrome. An important paralog of this gene is SCARA3.

UniProtKB/Swiss-Prot for COLQ Gene

  • Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina

Gene Wiki entry for COLQ Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COLQ Gene

Genomics for COLQ Gene

Regulatory Elements for COLQ Gene

Genomic Location for COLQ Gene

15,450,133 bp from pter
15,521,751 bp from pter
71,619 bases
Minus strand

Genomic View for COLQ Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COLQ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COLQ Gene

Proteins for COLQ Gene

  • Protein details for COLQ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Acetylcholinesterase collagenic tail peptide
    Protein Accession:
    Secondary Accessions:
    • B3KY09
    • Q6DK18
    • Q6YH18
    • Q6YH19
    • Q6YH20
    • Q6YH21
    • Q9NP18
    • Q9NP19
    • Q9NP20
    • Q9NP21
    • Q9NP22
    • Q9NP23
    • Q9NP24
    • Q9UP88

    Protein attributes for COLQ Gene

    455 amino acids
    Molecular mass:
    47766 Da
    Quaternary structure:
    • Homotrimer. Component of the asymmetric form of AChE, a disulfide-bonded oligomer composed of the collagenic subunits (Q) and a variable number of asymmetric catalytic subunits (T). The N-terminal of a collagenic subunit (Q) associates with the C-terminal of a catalytic subunit (T).

    Three dimensional structures from OCA and Proteopedia for COLQ Gene

    Alternative splice isoforms for COLQ Gene

neXtProt entry for COLQ Gene

Proteomics data for COLQ Gene at MOPED

Post-translational modifications for COLQ Gene

  • The triple-helical tail is stabilized by disulfide bonds at each end
  • Ubiquitination at Lys191
  • Modification sites at PhosphoSitePlus

Other Protein References for COLQ Gene

No data available for DME Specific Peptides for COLQ Gene

Domains for COLQ Gene

Protein Domains for COLQ Gene

Suggested Antigen Peptide Sequences for COLQ Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The proline-rich attachment domain (PRAD) binds the AChE catalytic subunits
  • Belongs to the COLQ family.
  • The proline-rich attachment domain (PRAD) binds the AChE catalytic subunits
  • Contains 2 collagen-like domains.
  • Belongs to the COLQ family.
genes like me logo Genes that share domains with COLQ: view

No data available for Gene Families for COLQ Gene

Function for COLQ Gene

Molecular function for COLQ Gene

GENATLAS Biochemistry:
collagen-like tail subunity,single strand of an homotrimer of the asymetric acetylcholinesterase,anchoring it into the basal lamina
UniProtKB/Swiss-Prot Function:
Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina

Gene Ontology (GO) - Molecular Function for COLQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15526038
genes like me logo Genes that share ontologies with COLQ: view
genes like me logo Genes that share phenotypes with COLQ: view

Animal Models for COLQ Gene

MGI Knock Outs for COLQ:

Animal Model Products

miRNA for COLQ Gene

miRTarBase miRNAs that target COLQ

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COLQ Gene

Localization for COLQ Gene

Subcellular locations from UniProtKB/Swiss-Prot for COLQ Gene

Cell junction, synapse.

Subcellular locations from

Jensen Localization Image for COLQ Gene COMPARTMENTS Subcellular localization image for COLQ gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 2
nucleus 2
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for COLQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005581 collagen trimer IEA --
GO:0005605 basal lamina TAS 9689136
GO:0005615 extracellular space TAS 9689136
GO:0030054 cell junction IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with COLQ: view

Pathways for COLQ Gene

SuperPathways for COLQ Gene

No Data Available

Gene Ontology (GO) - Biological Process for COLQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001507 acetylcholine catabolic process in synaptic cleft TAS 9689136
GO:0008105 asymmetric protein localization TAS 9689136
genes like me logo Genes that share ontologies with COLQ: view

No data available for Pathways by source for COLQ Gene

Drugs for COLQ Gene

(2) Novoseek inferred chemical compound relationships for COLQ Gene

Compound -log(P) Hits PubMed IDs
proline 35.5 2
heparin 10.2 8
genes like me logo Genes that share compounds with COLQ: view

Transcripts for COLQ Gene

Unigene Clusters for COLQ Gene

Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COLQ Gene

No ASD Table

Relevant External Links for COLQ Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COLQ Gene

mRNA expression in normal human tissues for COLQ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for COLQ Gene

This gene is overexpressed in Pancreas (60.6) and Adipocyte (8.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for COLQ Gene

SOURCE GeneReport for Unigene cluster for COLQ Gene Hs.146735

mRNA Expression by UniProt/SwissProt for COLQ Gene

Tissue specificity: Found at the end plate of skeletal muscle
genes like me logo Genes that share expressions with COLQ: view

Expression partners for COLQ Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for COLQ Gene

Orthologs for COLQ Gene

This gene was present in the common ancestor of animals.

Orthologs for COLQ Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia COLQ 35
  • 86.75 (n)
  • 88.52 (a)
  • 89 (a)
(Canis familiaris)
Mammalia COLQ 35
  • 89.75 (n)
  • 88.05 (a)
(Mus musculus)
Mammalia Colq 35
  • 89.13 (n)
  • 91.19 (a)
Colq 16
Colq 36
  • 91 (a)
(Pan troglodytes)
Mammalia COLQ 35
  • 99.34 (n)
  • 99.12 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Colq 35
  • 86.83 (n)
  • 88.08 (a)
(Monodelphis domestica)
Mammalia COLQ 36
  • 66 (a)
(Ornithorhynchus anatinus)
Mammalia COLQ 36
  • 79 (a)
(Gallus gallus)
Aves COLQ 35
  • 70.48 (n)
  • 69.23 (a)
  • 69 (a)
(Anolis carolinensis)
Reptilia COLQ 36
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia colq 35
  • 65.35 (n)
  • 65.03 (a)
(Danio rerio)
Actinopterygii colq 36
  • 55 (a)
COLQ (2 of 2) 36
  • 55 (a)
(Caenorhabditis elegans)
Secernentea col-10 36
  • 23 (a)
col-118 36
  • 26 (a)
col-126 36
  • 24 (a)
col-127 36
  • 24 (a)
col-144 36
  • 23 (a)
col-145 36
  • 24 (a)
col-148 36
  • 25 (a)
col-149 36
  • 24 (a)
col-150 36
  • 22 (a)
col-176 36
  • 25 (a)
col-177 36
  • 19 (a)
col-187 36
  • 25 (a)
col-61 36
  • 24 (a)
col-89 36
  • 25 (a)
Species with no ortholog for COLQ:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COLQ Gene

Gene Tree for COLQ (if available)
Gene Tree for COLQ (if available)

Paralogs for COLQ Gene

(6) SIMAP similar genes for COLQ Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with COLQ: view

Variants for COLQ Gene

Sequence variations from dbSNP and Humsavar for COLQ Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs3274 -- 15,450,249(-) GCAGC(C/T)CTGTT utr-variant-3-prime
rs731561 -- 15,454,836(+) ATTTT(A/T)ATTTT intron-variant
rs750387 Benign 15,479,331(-) TATGG(A/G)CCACT intron-variant
rs878945 -- 15,467,820(-) GGAAA(C/G)GAGTC intron-variant
rs878946 -- 15,467,705(-) GTGTC(A/G)ATCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COLQ Gene

Variant ID Type Subtype PubMed ID
nsv834621 CNV Gain 17160897
nsv834622 CNV Gain 17160897
nsv876582 CNV Gain 21882294
nsv822003 CNV Gain 20364138
esv275345 CNV Gain+Loss 21479260

Relevant External Links for COLQ Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COLQ Gene

Disorders for COLQ Gene

(1) OMIM Diseases for COLQ Gene (603033)


  • Myasthenic syndrome, congenital, Engel type (CMSE) [MIM:603034]: A rare autosomal recessive congenital myasthenic syndrome characterized by onset during childhood, generalized weakness, abnormal fatigability on exertion, refrectoriness to acetylcholinesterase drugs, decremental electromyographic response and morphological abnormalities of the neuromuscular junctions. {ECO:0000269 PubMed:10665486, ECO:0000269 PubMed:11865139, ECO:0000269 PubMed:24938146, ECO:0000269 PubMed:9758617}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for COLQ Gene

(6) Novoseek inferred disease relationships for COLQ Gene

Disease -log(P) Hits PubMed IDs
endplate acetylcholinesterase deficiency 96.7 3
myasthenic syndromes congenital 93.1 5
nasopharyngeal carcinoma 66 2
ebv infections 43.3 1
connective tissue diseases 41.8 1

Relevant External Links for COLQ

Genetic Association Database (GAD)
genes like me logo Genes that share disorders with COLQ: view

No data available for Genatlas for COLQ Gene

Publications for COLQ Gene

  1. Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. (PMID: 9689136) Ohno K. … Engel A.G. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 23
  2. Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). (PMID: 9758617) Donger C. … Guicheney P. (Am. J. Hum. Genet. 1998) 3 4 23 48
  3. Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. (PMID: 11865139) Shapira Y.A. … Engel A.G. (Neurology 2002) 3 4 23
  4. Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency. (PMID: 12609505) Ishigaki K. … HantaA^ D. (Neuromuscul. Disord. 2003) 3 23
  5. MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction. (PMID: 15159418) Cartaud A. … Legay C. (J. Cell Biol. 2004) 3 23

Products for COLQ Gene

Sources for COLQ Gene

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