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... See more...

Aliases for COLQ Gene

Aliases for COLQ Gene

  • Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase 2 3 5
  • 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
  • Collagen-Like Tail Subunit (Single Strand Of Homotrimer) Of Asymmetric Acetylcholinesterase 2 3
  • Collagenic Tail Of Endplate Acetylcholinesterase 2 3
  • Acetylcholinesterase Collagenic Tail Peptide 3 4
  • EAD 2 3
  • CMS5 3
  • COLQ 5

External Ids for COLQ Gene

Previous GeneCards Identifiers for COLQ Gene

  • GC03M015420
  • GC03M015466
  • GC03M015491
  • GC03M015426
  • GC03M015452
  • GC03M015517

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 Of Asymmetric Acetylcholinesterase) is a Protein Coding gene. Diseases associated with COLQ include Myasthenic Syndrome, Congenital, 5 and Congenital Myasthenic Syndrome. An important paralog of this gene is COL5A1.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COLQ Gene

Genomics for COLQ Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for COLQ Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J015519 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 638.8 +0.8 814 2.4 ZSCAN4 ZFHX2 ZNF398 EGR2 RNF2 CBFA2T3 HDAC1 COLQ EAF1 HACL1 ANKRD28 SH3BP5 METTL6 CAPN7 piR-45035-130
GH03J015561 Promoter/Enhancer 1.1 EPDnew ENCODE dbSUPER 605 -41.0 -41041 3.5 SP1 SCRT2 FOXA2 JUND HNF4A RXRA MAX REST HNF4G FOXA1 COLQ HACL1 RNU6-1024P EAF1-AS1 CAPN7 COL6A4P1 METTL6 lnc-BTD-5 BTD
GH03J015497 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 29.9 +22.0 22041 3.8 ZIC2 CEBPB RXRA GLIS1 TBX21 ENSG00000288077 LOC105376964 EAF1 COLQ ANKRD28 METTL6 RNU6-1024P CAPN7 EAF1-AS1 COL6A4P1
GH03J015557 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 26.7 -36.0 -36013 0.4 CTCF REST RAD21 TRIM22 UBTF HMBOX1 ZSCAN29 ZNF316 MAFF SMC3 lnc-BTD-5 piR-38516 COLQ EAF1 HACL1 ANKRD28 METTL6 SH3BP5 BTD
GH03J015555 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 24.7 -35.0 -34997 1.3 STAT3 IKZF2 CTCF RCOR1 TRIM22 EED DPF2 RELB RUNX3 ASH2L lnc-BTD-5 piR-38516 COLQ EAF1 HACL1 ANKRD28 SH3BP5 METTL6 CAPN7 BTD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COLQ on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COLQ

Top Transcription factor binding sites by QIAGEN in the COLQ gene promoter:
  • CREB
  • deltaCREB

Genomic Locations for COLQ Gene

Genomic Locations for COLQ Gene
chr3:15,450,133-15,521,751
(GRCh38/hg38)
Size:
71,619 bases
Orientation:
Minus strand
chr3:15,491,640-15,563,258
(GRCh37/hg19)
Size:
71,619 bases
Orientation:
Minus strand

Genomic View for COLQ Gene

Genes around COLQ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COLQ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q9Y215-COLQ_HUMAN
    Recommended name:
    Acetylcholinesterase collagenic tail peptide
    Protein Accession:
    Q9Y215
    Secondary Accessions:
    • B3KY09
    • Q6DK18
    • Q6YH18
    • Q6YH19
    • Q6YH20
    • Q6YH21
    • Q9NP18
    • Q9NP19
    • Q9NP20
    • Q9NP21
    • Q9NP22
    • Q9NP23
    • Q9NP24
    • Q9UP88

    Protein attributes for COLQ Gene

    Size:
    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).
    Miscellaneous:
    • [Isoform VII]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Three dimensional structures from OCA and Proteopedia for COLQ Gene

    Alternative splice isoforms for COLQ Gene

neXtProt entry for COLQ Gene

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 & Families for COLQ Gene

Gene Families for COLQ Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for COLQ Gene

InterPro:
Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
ProtoNet:

Suggested Antigen Peptide Sequences for COLQ Gene

GenScript: Design optimal peptide antigens:
  • Acetylcholinesterase-associated collagen (COLQ_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y215

UniProtKB/Swiss-Prot:

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

Function for COLQ Gene

Molecular function for COLQ Gene

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

Phenotypes From GWAS Catalog for COLQ Gene

Gene Ontology (GO) - Molecular Function for COLQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent RCA 25037231
GO:0005515 protein binding IPI 15526038
GO:0008201 heparin binding IBA 21873635
genes like me logo Genes that share ontologies with COLQ: view
genes like me logo Genes that share phenotypes with COLQ: view

Human Phenotype Ontology for COLQ Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for COLQ Gene

miRTarBase miRNAs that target COLQ

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COLQ

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COLQ gene
Compartment Confidence
extracellular 5
plasma membrane 4
endoplasmic reticulum 2
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COLQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005581 collagen trimer IEA --
GO:0005604 basement membrane TAS 9689136
GO:0005615 extracellular space TAS,IBA 21873635
GO:0005886 plasma membrane IDA --
GO:0030054 cell junction IEA,IDA --
genes like me logo Genes that share ontologies with COLQ: view

Pathways & Interactions for COLQ Gene

PathCards logo

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:0008582 regulation of synaptic growth at neuromuscular junction IEA --
GO:0030198 extracellular matrix organization IBA 21873635
GO:0042135 neurotransmitter catabolic process IEA --
GO:0071340 skeletal muscle acetylcholine-gated channel clustering 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
genes like me logo Genes that share compounds with COLQ: view

Transcripts for COLQ Gene

mRNA/cDNA for COLQ Gene

8 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COLQ

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

No ASD Table

Relevant External Links for COLQ Gene

GeneLoc Exon Structure for
COLQ

Expression for COLQ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for COLQ Gene



Protein tissue co-expression partners for COLQ Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COLQ

SOURCE GeneReport for Unigene cluster for COLQ Gene:

Hs.146735

mRNA Expression by UniProt/SwissProt for COLQ Gene:

Q9Y215-COLQ_HUMAN
Tissue specificity: Found at the end plate of skeletal muscle.

Evidence on tissue expression from TISSUES for COLQ Gene

  • Muscle(4.6)
  • Blood(4.3)
  • Lung(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COLQ Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • larynx
  • mouth
  • neck
  • pharynx
  • vocal cord
Thorax:
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • stomach
Pelvis:
  • pelvis
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with COLQ: view

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
Chimpanzee
(Pan troglodytes)
Mammalia COLQ 30 31
  • 99.34 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia COLQ 30
  • 89.75 (n)
Mouse
(Mus musculus)
Mammalia Colq 30 31
  • 89.13 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Colq 30
  • 86.83 (n)
Cow
(Bos Taurus)
Mammalia COLQ 30 31
  • 86.75 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia COLQ 31
  • 79 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia COLQ 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves COLQ 30 31
  • 70.48 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia COLQ 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia colq 30
  • 65.35 (n)
Zebrafish
(Danio rerio)
Actinopterygii COLQ (2 of 2) 31
  • 55 (a)
OneToMany
colq 31
  • 55 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea col-118 31
  • 26 (a)
ManyToMany
col-148 31
  • 25 (a)
ManyToMany
col-187 31
  • 25 (a)
ManyToMany
col-176 31
  • 25 (a)
ManyToMany
col-89 31
  • 25 (a)
ManyToMany
col-145 31
  • 24 (a)
ManyToMany
col-127 31
  • 24 (a)
ManyToMany
col-149 31
  • 24 (a)
ManyToMany
col-61 31
  • 24 (a)
ManyToMany
col-126 31
  • 24 (a)
ManyToMany
col-144 31
  • 23 (a)
ManyToMany
col-10 31
  • 23 (a)
ManyToMany
col-150 31
  • 22 (a)
ManyToMany
col-177 31
  • 19 (a)
ManyToMany
Species where no ortholog for COLQ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for COLQ (if available)
TreeFam:
Gene Tree for COLQ (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COLQ: view image

Paralogs for COLQ Gene

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

  • COLQ_HUMAN
  • C9JBB2_HUMAN
  • F8WA67_HUMAN
  • S4R408_HUMAN
genes like me logo Genes that share paralogs with COLQ: view

Variants for COLQ Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COLQ Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
635761 Likely Pathogenic: Endplate acetylcholinesterase deficiency 15,453,829(-) C/T MISSENSE_VARIANT
636303 Likely Pathogenic: Congenital myasthenic syndrome 15,488,248(-) G/T NONSENSE,INTRON_VARIANT
642161 Uncertain Significance: Endplate acetylcholinesterase deficiency 15,474,961(-) A/T INTRON_VARIANT
644732 Uncertain Significance: Endplate acetylcholinesterase deficiency 15,474,244(-) C/T MISSENSE_VARIANT
645303 Uncertain Significance: Endplate acetylcholinesterase deficiency 15,466,386(-) A/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for COLQ Gene

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

Variant ID Type Subtype PubMed ID
esv275345 CNV gain+loss 21479260
nsv1117328 CNV tandem duplication 24896259
nsv822003 CNV gain 20364138
nsv834621 CNV gain 17160897
nsv834622 CNV gain 17160897

Variation tolerance for COLQ Gene

Residual Variation Intolerance Score: 24.2% 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)

Additional Variant Information for COLQ Gene

Human Gene Mutation Database (HGMD)
COLQ
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COLQ

SNP Genotyping and Copy Number Assay Products

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

Disorders for COLQ Gene

MalaCards: The human disease database

(18) MalaCards diseases for COLQ Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search COLQ in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COLQ_HUMAN
  • 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.

Additional Disease Information for COLQ

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 AG (Proceedings of the National Academy of Sciences of the United States of America 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 (American journal of human genetics 1998) 3 4 23 41
  3. Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. (PMID: 11865139) Shapira YA … Engel AG (Neurology 2002) 3 4 23
  4. Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family. (PMID: 24938146) Matlik HN … Ali BR (Pediatric neurology 2014) 3 4
  5. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. (PMID: 18180250) Mihaylova V … Lochmüller H (Brain : a journal of neurology 2008) 3 23

Products for COLQ Gene

Sources for COLQ Gene