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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
  • CMS5 3
  • EAD 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 myasthenic syndrome, congenital, 5 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 Lys 191
  • Modification sites at PhosphoSitePlus

Other Protein References for COLQ Gene

No data available for DME Specific Peptides for COLQ Gene

Domains & Families 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
plasma membrane 2
nucleus 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:0031594 neuromuscular junction IEA --
genes like me logo Genes that share ontologies with COLQ: view

Pathways & Interactions 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
GO:0008582 regulation of synaptic growth at neuromuscular junction IEA --
GO:0071340 skeletal muscle acetylcholine-gated channel clustering IEA --
GO:0090150 establishment of protein localization to membrane IEA --
genes like me logo Genes that share ontologies with COLQ: view

No data available for Pathways by source and SIGNOR curated interactions for COLQ Gene

Drugs & Compounds for COLQ Gene

(2) Drugs for COLQ Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Heparin Approved, Investigational Pharma Antagonist 672,226
proline Nutra 20
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 from HIPED for COLQ Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with COLQ: view

Protein tissue co-expression partners for COLQ Gene

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
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
rs905640 -- 15,454,333(+) TTCTG(C/T)GTGAC 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

Variation tolerance for COLQ Gene

Residual Variation Intolerance Score: 24.16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.22; 62.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COLQ Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

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

Disorders for COLQ Gene

MalaCards: The human disease database

(7) MalaCards diseases for COLQ Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 5
  • endplate acetylcholinesterase deficiency
colq-related congenital myasthenic syndrome
synaptic congenital myasthenic syndromes
familial hodgkin disease
  • familial hodgkin lymphoma
congenital myasthenic syndrome
  • familial limb-girdle myasthenia
- elite association
Search COLQ in MalaCards View complete list of genes associated with diseases


  • Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS5 inheritance is autosomal recessive. {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.

Relevant External Links for COLQ

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 23 67
  2. What have we learned from the congenital myasthenic syndromes. (PMID: 19688192) Engel A.G. … Sine S.M. (J. Mol. Neurosci. 2010) 23 67
  3. Clinical values of multiple Epstein-Barr virus (EBV) serological biomarkers detected by xMAP technology. (PMID: 19698162) Gu A.D. … Zeng Y.X. (J Transl Med 2009) 23 67
  4. Dissociation of transcription, translation, and assembly of collagen-tailed acetylcholinesterase in skeletal muscle. (PMID: 19509281) Ruiz C.A. … Rotundo R.L. (J. Biol. Chem. 2009) 23 67
  5. Evidence-based approach for interpretation of Epstein-Barr virus serological patterns. (PMID: 19656988) Klutts J.S. … Gronowski A.M. (J. Clin. Microbiol. 2009) 23 67

Products for COLQ Gene

Sources for COLQ Gene

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