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COLQ Gene

protein-coding   GIFtS: 57
GCID: GC03M015491

Collagen-Like Tail Subunit (Single Strand Of Homotrimer)...

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Collagen-Like Tail Subunit (Single Strand Of Homotrimer) Of Asymmetric
Acetylcholinesterase1 2
     Single Strand Of Homotrimeric Collagen-Like Tail Subunit Of Asymmetric
Acetylcholinesterase1 2
AChE Q Subunit1 2 3     EAD2 5
Acetylcholinesterase-Associated Collagen1 2 3     Acetylcholinesterase Collagenic Tail Peptide2
Collagenic Tail Of Endplate Acetylcholinesterase1 2     

External Ids:    HGNC: 22261   Entrez Gene: 82922   Ensembl: ENSG000002065617   OMIM: 6030335   UniProtKB: Q9Y2153   

Export aliases for COLQ gene to outside databases

Previous GC identifers: GC03M015420 GC03M015466 GC03M015426


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 COL28A1.

UniProtKB/Swiss-Prot: COLQ_HUMAN, Q9Y215
Function: Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina

Gene Wiki entry for COLQ Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the COLQ gene promoter:
         CREB   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOLQ promoter sequence
   Search Chromatin IP Primers for COLQ

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COLQ


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p25   Ensembl cytogenetic band:  3p25.1   HGNC cytogenetic band: 3p

COLQ Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COLQ gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M015491:  view genomic region     (about GC identifiers)

Start:
15,491,640 bp from pter      End:
15,563,258 bp from pter
Size:
71,619 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: COLQ_HUMAN, Q9Y215 (See protein sequence)
Recommended Name: Acetylcholinesterase collagenic tail peptide precursor  
Size: 455 amino acids; 47766 Da
Subunit: 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)
1 PDB 3D structure from and Proteopedia for COLQ:
1VZJ (3D)    
Secondary accessions: B3KY09 Q6DK18 Q6YH18 Q6YH19 Q6YH20 Q6YH21 Q9NP18 Q9NP19 Q9NP20 Q9NP21
Q9NP22 Q9NP23 Q9NP24 Q9UP88
Alternative splicing: 8 isoforms:  Q9Y215-1   Q9Y215-2   Q9Y215-3   Q9Y215-4   Q9Y215-5   Q9Y215-6   Q9Y215-7   Q9Y215-8   
(May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for COLQ: NX_Q9Y215

Explore proteomics data for COLQ at MOPED

Post-translational modifications: 

  • The triple-helical tail is stabilized by disulfide bonds at each end1
  • Ubiquitination2 at Lys191
  • Modification sites at PhosphoSitePlus

  • See COLQ Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_005668.2  NP_536799.1  NP_536800.2  

    ENSEMBL proteins: 
     ENSP00000373298   ENSP00000373291   ENSP00000474271   ENSP00000373296   ENSP00000474936  
     ENSP00000373297   ENSP00000402511   ENSP00000373295  

    COLQ Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for COLQ
    OriGene Custom MassSpec
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    Novus Biologicals COLQ Protein
    Novus Biologicals COLQ Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for COLQ

    COLQ Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Search for Antibodies for COLQ at Abcam
    Cloud-Clone Corp. Antibodies for COLQ
    ThermoFisher Antibodies for COLQ
    LSBio Antibodies in human, mouse, rat for COLQ

    COLQ Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for COLQ
    Cloud-Clone Corp. CLIAs for COLQ


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR011936 Myxo_disulph_rpt
     IPR008160 Collagen

    Graphical View of Domain Structure for InterPro Entry Q9Y215

    ProtoNet protein and cluster: Q9Y215

    2 Blocks protein domains:
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: COLQ_HUMAN, Q9Y215
    Domain: The proline-rich attachment domain (PRAD) binds the AChE catalytic subunits
    Similarity: Belongs to the COLQ family
    Similarity: Contains 2 collagen-like domains


    COLQ for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COLQ_HUMAN, Q9Y215
    Function: Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina

         Genatlas biochemistry entry for COLQ:
    collagen-like tail subunity,single strand of an homotrimer of the asymetric acetylcholinesterase,anchoring it into
    the basal lamina

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15526038
         
    COLQ for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Colq):
     behavior/neurological  growth/size/body  mortality/aging  nervous system 

    COLQ for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Colqtm1Jrs for COLQ

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COLQ
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COLQ

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COLQ
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COLQ

    miRNA
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    miRTarBase miRNAs that target COLQ:
    hsa-mir-335-5p (MIRT017367)

    Block miRNA regulation of human, mouse, rat COLQ using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COLQ (see all 14):
    hsa-miR-513a-5p hsa-miR-27a hsa-miR-3617 hsa-miR-132 hsa-miR-3190 hsa-miR-214 hsa-miR-499-5p hsa-miR-641
    SwitchGear 3'UTR luciferase reporter plasmidCOLQ 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for COLQ
    Predesigned siRNA for gene silencing in human, mouse, rat COLQ

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for COLQ

    Clone
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    OriGene clones in human, mouse for COLQ (see all 19)
    OriGene ORF clones in mouse, rat for COLQ
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): COLQ (NM_080539)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COLQ
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COLQ

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    Browse ESI BIO Cell Lines and PureStem Progenitors for COLQ 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COLQ


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    COLQ_HUMAN, Q9Y215: Cell junction, synapse
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    endoplasmic reticulum2
    nucleus2
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005581collagen IEA--
    GO:0005605basal lamina TAS9689136
    GO:0005615extracellular space TAS9689136
    GO:0030054cell junction IEA--
    GO:0045202synapse IEA--

    COLQ for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COLQ
    Interactions:

        GeneGlobe Interaction Network for COLQ

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for COLQ (Q9Y2151, 3 ENSP000003732984) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACHEP223031, 3, ENSP000003032114EBI-1637847,EBI-1637793 I2D: score=3 STRING: ENSP00000303211
    BCHEP062763, ENSP000002643814I2D: score=2 STRING: ENSP00000264381
    MUSKO151463, ENSP000003635714I2D: score=1 STRING: ENSP00000363571
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001507acetylcholine catabolic process in synaptic cleft TAS9689136
    GO:0008105asymmetric protein localization TAS9689136

    COLQ for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for COLQ

    2 Novoseek inferred chemical compound relationships for COLQ gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    proline 35.5 3 18076380 (1), 16114264 (1)
    heparin 10.2 10 12684510 (5), 10679527 (2), 16114264 (1)



    COLQ for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for COLQ gene (8 alternative transcripts): 
    NM_005677.3  NM_080538.2  NM_080539.3  NM_080540.3  NM_080541.2  NM_080542.2  NM_080543.2  NM_080544.2  

    Unigene Cluster for COLQ:

    Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
    Hs.146735  [show with all ESTs]
    Unigene Representative Sequence: NM_080538
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000383788(uc003cad.1 uc003cae.1) ENST00000603752 ENST00000383781(uc003bzv.3)
    ENST00000603808 ENST00000383786 ENST00000605797 ENST00000604401 ENST00000603469
    ENST00000383787 ENST00000435459 ENST00000383785(uc003bzx.3 uc010heo.3)

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Block miRNA regulation of human, mouse, rat COLQ using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COLQ (see all 14):
    hsa-miR-513a-5p hsa-miR-27a hsa-miR-3617 hsa-miR-132 hsa-miR-3190 hsa-miR-214 hsa-miR-499-5p hsa-miR-641
    SwitchGear 3'UTR luciferase reporter plasmidCOLQ 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for COLQ
    Predesigned siRNA for gene silencing in human, mouse, rat COLQ
    Clone
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    OriGene clones in human, mouse for COLQ (see all 19)
    OriGene ORF clones in mouse, rat for COLQ
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): COLQ (NM_080539)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COLQ
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COLQ
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for COLQ
    OriGene qSTAR qPCR primer pairs in human, mouse for COLQ
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat COLQ
      QuantiTect SYBR Green Assays in human, mouse, rat COLQ
      QuantiFast Probe-based Assays in human, mouse, rat COLQ

    Additional mRNA sequence: 

    AF057036.1 AJ225895.1 AK128401.1 AK289688.1 AY150334.1 AY150335.1 AY150336.1 AY150337.1 
    AY150338.1 AY150339.1 BC074828.2 BC074829.2 BC126363.1 BC144004.1 

    7 DOTS entries:

    DT.40275712  DT.100020969  DT.101977323  DT.100020967  DT.100020971  DT.100020968  DT.91997782 

    Selected AceView cDNA sequences (see all 38):

    AY150334 AI690739 NM_005677 BC074828 BQ012516 BC074829 AK128401 AI247649 
    AF057036 AY150338 AY150335 AY150337 NM_080543 BX500613 NM_080542 AY150339 
    AJ225895 NM_080540 NM_080544 BQ012249 NM_080541 NM_080538 AI167504 BG236245 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    COLQ expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCTTCCAC
    COLQ Expression
    About this image


    COLQ expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Natural Killer Cells Peripheral Blood
    COLQ Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COLQ Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.146735

    UniProtKB/Swiss-Prot: COLQ_HUMAN, Q9Y215
    Tissue specificity: Found at the end plate of skeletal muscle

        Custom PCR Arrays for COLQ
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COLQ

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for COLQ gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Colq1 , 5 collagen-like tail subunit (single strand of homotrimer) more1, 5 89.13(n)1
    91.19(a)1
      14 (19.18 cM)5
    3828641  NM_009937.21  NP_034067.21 
     315230825 
    chicken
    (Gallus gallus)
    Aves COLQ1 collagen-like tail subunit (single strand of homotrimer) more 70.48(n)
    69.23(a)
      776178  XM_001235719.3  XP_001235720.2 
    lizard
    (Anolis carolinensis)
    Reptilia COLQ6
    collagen-like tail subunit (single strand of homot...
    69(a)
    1 ↔ 1
    6(35386115-35433356)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia colq1 collagen-like tail subunit (single strand of homotrimer) more 65.35(n)
    65.03(a)
      100492824  XM_004915390.1  XP_004915447.1 
    zebrafish
    (Danio rerio)
    Actinopterygii COLQ (2 of 2)6
    colq6
    collagen-like tail subunit (single strand of homot...
    collagen-like tail subunit (single strand of homot...
    55(a)
    55(a)
    1 ↔ many
    1 ↔ many
    19(20137180-20155734) ENSDARG00000074216
    16(22285802-22326723) ENSDARG00000019692
    worm
    (Caenorhabditis elegans)
    Secernentea col-1186
    col-1486
    (see all 14)
    Protein COL-148 (col-148) mRNA, complete cds
    (see all 14)
    26(a)
    25(a)
    (see all 14)
    many ↔ many
    many ↔ many
    (see all 14)
    IV(8848182-8849676) WBGene00000692
    V(10241784-10242718) WBGene00000721


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COLQ gene
    COL28A12  COL6A12  COL6A62  COLEC122  COL6A22  SCARA32  COL17A12  COL6A52  
    COL6A32  
    6 SIMAP similar genes for COLQ using alignment to 4 protein entries:     COLQ_HUMAN (see all proteins):
    COL4A3    COL18A1    COL21A1    COL6A6    COL6A2    COL5A3

    COLQ for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for COLQ (see all 1645)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0101344
    Myasthenic syndrome, congenital, Engel type (CMSE)4--see VAR_0101342 D E mis40--------
    VAR_0101364
    Myasthenic syndrome, congenital, Engel type (CMSE)4--see VAR_0101362 Y S mis40--------
    VAR_0101334
    Myasthenic syndrome, congenital, Engel type (CMSE)4--see VAR_0101332 P Q mis40--------
    VAR_0101374
    Myasthenic syndrome, congenital, Engel type (CMSE)4--see VAR_0101372 C Y mis40--------
    VAR_0101354
    Myasthenic syndrome, congenital, Engel type (CMSE)4--see VAR_0101352 R Q mis40--------
    rs1048937351,2
    Cpathogenic115443364(-) GTCAGG/TGACAG 6 G * stg10--------
    rs1048937331,2
    Cpathogenic115447543(-) AGGGTG/TAAATG 6 E * stg10--------
    rs1048937341,2
    Cpathogenic115452374(-) AGGGTC/GAAGAG 6 S * stg10--------
    rs731441981,2
    C,F--15426703(+) CTGTGG/AGGAGG 3 -- ds50015Minor allele frequency- A:0.14WA CSA NA 244
    rs758557041,2
    C,F--15426763(+) GGACAG/AGGCCT 3 -- ds50011Minor allele frequency- A:0.02EA 120

    HapMap Linkage Disequilibrium report for COLQ (15491640 - 15563258 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for COLQ:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv822003CNV Gain20364138
    nsv876582CNV Gain21882294
    nsv834622CNV Gain17160897
    nsv834621CNV Gain17160897
    esv275345CNV Gain+Loss21479260

    Human Gene Mutation Database (HGMD): COLQ
    Locus Specific Mutation Databases (LSDB): COLQ

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603033   
    OMIM disorders: 603034  
    UniProtKB/Swiss-Prot: COLQ_HUMAN, Q9Y215
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for COLQ (see all 22):    
    About MalaCards
    endplate acetylcholinesterase deficiency    colq-related congenital myasthenic syndrome    familial hodgkin disease    nasopharynx carcinoma
    peripheral primitive neuroectodermal tumor    congenital myasthenic syndrome    congenital heart block    connective tissue disease
    nasopharyngitis    primitive neuroectodermal tumor    long qt syndrome    vascular dementia
    gastroenteritis    severe combined immunodeficiency    sjogren's syndrome    dementia
    burkitt's lymphoma    kaposi's sarcoma    sarcoma    multiple sclerosis

    2 diseases from the University of Copenhagen DISEASES database for COLQ:
    Long QT syndrome     Nasopharynx carcinoma

    COLQ for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for COLQ gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    endplate acetylcholinesterase deficiency 96.7 3 12609505 (1), 9689136 (1), 17300939 (1)
    myasthenic syndromes congenital 93.1 5 15248101 (2), 11865139 (1), 17300939 (1), 9758617 (1)
    nasopharyngeal carcinoma 66 2 8820030 (1), 1651778 (1)
    ebv infections 43.3 1 19656988 (1)
    connective tissue diseases 41.8 1 2173736 (1)
    tumors 0 1 1309425 (1)

    GeneTests: COLQ
    GeneReviews: COLQ
    Genetic Association Database (GAD): COLQ

    Export disorders for COLQ gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for COLQ gene, integrated from 10 sources (see all 65):
    (articles sorted by number of sources associating them with COLQ)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. (PubMed id 9689136)1, 2, 3, 9 Ohno K.... Engel A.G. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    2. Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). (PubMed id 9758617)1, 2, 4, 9 Donger C.... Guicheney P. (Am. J. Hum. Genet. 1998)
    3. The synaptic acetylcholinesterase tetramer assembles around a polyproline II helix. (PubMed id 15526038)1, 2 Dvir H.... Silman I. (EMBO J. 2004)
    4. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (Genome Biol. 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Transcriptional regulation of acetylcholinesterase-associated collagen ColQ in fast- and slow-twitch muscle fibers. (PubMed id 16256971)1, 9 Ting A.K....Tsim K.W. (Chem. Biol. Interact. 2005)
    7. MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction. (PubMed id 15159418)1, 9 Cartaud A....Legay C. (J. Cell Biol. 2004)
    8. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. (PubMed id 18180250)1, 9 Mihaylova V....LochmA1ller H. (Brain 2008)
    9. Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. (PubMed id 11865139)1, 9 Shapira Y.A....Engel A.G. (Neurology 2002)
    10. Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives. (PubMed id 17300939)1, 9 Schreiner F....Woelfle J. (Neuromuscul. Disord. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8292 HGNC: 2226 AceView: COLQ Ensembl:ENSG00000206561 euGenes: HUgn8292
    ECgene: COLQ H-InvDB: COLQ

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for COLQ Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=COLQ[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COLQ gene:
    Search GeneIP for patents involving COLQ

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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