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Colq Gene Detail
Summary
  • Symbol
    Colq
  • Name
    collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
Location & Maps
more
  • Sequence Map
    Chr14:31523082-31591343 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      68262 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 19.18 cM, cytoband B
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    COLQ, collagen like tail subunit of asymmetric acetylcholinesterase
  • Human Ortholog
    COLQ, collagen like tail subunit of asymmetric acetylcholinesterase
    Orthology source: HGNC
  • Synonyms
    CMS5, EAD
  • Links
    NCBI Gene ID: 8292
    neXtProt AC: NX_Q9Y215

  • Chr Location
    3p25; chr3:15450133-15521751 (-)  GRCh38.p2

  • HCOP
    human homology predictions: COLQ
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Colq mouse models; 1 with human COLQ associations

Human Disease Mouse Models
       Myasthenic Syndrome, Congenital, 5; CMS5   OMIM: 603034 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 2 alleles in 1 genetic background
    2 images
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for targeted null mutations exhibit tremors, reduced body weight, lack of asymmetric forms of acetylcholinesterase and butyrylcholinesterase, and lethality prior to maturation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033849 VEGA Gene Model | MGI Sequence Detail 68262 C57BL/6J ±  kb
transcript OTTMUST00000085298 VEGA | MGI Sequence Detail 2837 Not Applicable  
polypeptide OTTMUSP00000046070 VEGA | MGI Sequence Detail 457 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    314 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000005728 acetylcholinesterase collagenic tail peptide
  • InterPro Domains
    IPR008160 Collagen triple helix repeat
    IPR011936 Myxococcus cysteine-rich repeat
Molecular
Reagents
less
  • All nucleic 9
    cDNA 9

    Microarray probesets 3
References
more
  • Summaries
    All 23
    Diseases 1
    Gene Ontology 2
    Phenotypes 7
  • Earliest
    J:54000 Krejci E, et al., The mammalian gene of acetylcholinesterase-associated collagen. J Biol Chem. 1997 Sep 5;272(36):22840-7
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory