Property Summary

NCBI Gene PubMed Count 21
PubMed Score 697.13
PubTator Score 94.86

Knowledge Summary


No data available


  Differential Expression (2)

Disease log2 FC p
glioblastoma -1.100 7.6e-05
posterior fossa group B ependymoma 1.200 1.2e-05

Pathway (1)

Gene RIF (12)

26282582 Global splicing analysis with RNA-seq revealed that exons carrying the hnRNP H-binding GGGGG motif are predisposed to be skipped compared to those carrying the SRSF1-binding GGAGG motif in both human and mouse brains.
24938146 study identified the molecular cause underlying congenital myasthenic syndrome in two patients in a Syrian family, a novel missense mutation, homozygous single nucleotide substitution (c.1010T>C) in the COLQ gene
24281389 findings suggest that the impaired attachment of COOH-terminal mutants causing EP AChE deficiency is in part independent of MuSK, and that the COOH-terminus of ColQ may interact with other proteins at the BL
23553736 We proved that the missense mutations in ColQ-CTD cause endplate AChE deficiency by compromising ColQ-MuSK interaction at the NMJ.
22490774 This study presented that four cases illustrate the clinical spectrum of the recurrent homozygous W148X mutation in the COLQ gene.
22088788 Long-term follow-up of patients with COLQ mutations showed no genotype-phenotype correlation, 80% of patients were ambulant and 87% of patients had no respiratory trouble in spite of severe relapses.
20370815 two siblings have identical novel heterozygous mutations but different phenotypic expressions.
18180250 Twenty different mutations of the COLQ gene have been identified in our patients: The mutations are missense (6), splice-site (3), in-frame deletion (1), non-sense (4) and frameshift (6). The majority of the mutations are protein truncating.
17300939 we found familial occurrence of congenital ptosis in heterozygous carriers of 950delC.
16256971 muscle fiber type-specific expression pattern of ColQ transcripts was regulated by a slow upsteam regulatory element (SURE) and a fast intronic regulatory element (FIRE)
12609505 Both patients presented a novel splicing mutation (IVS1-1G-->A) affecting the exon encoding the proline-rich attachment domain (PRAD), which interacts with acetylcholinesterase.
11865139 Three novel colq protein mutations in eight kinships.

AA Sequence

DFGYLTCETYLPGSYGDLQCTQYCYIDSTPCRYFT                                       421 - 455

Text Mined References (23)

PMID Year Title
26282582 2015 SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome.
24938146 2014 Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.
24281389 2014 COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.
23553736 2013 Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction.
22490774 2012 Recurrent COLQ mutation in congenital myasthenic syndrome.
22088788 2012 Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.
20370815 2010 Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations.
18180250 2008 Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
17300939 2007 Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives.
16256971 2005 Transcriptional regulation of acetylcholinesterase-associated collagen ColQ in fast- and slow-twitch muscle fibers.
15526038 2004 The synaptic acetylcholinesterase tetramer assembles around a polyproline II helix.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14759258 2004 An unappreciated role for RNA surveillance.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12609505 2003 Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11865139 2002 Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.
10679527 2000 Molecular modeling of the collagen-like tail of asymmetric acetylcholinesterase.
10665486 2000 The spectrum of mutations causing end-plate acetylcholinesterase deficiency.
10529218 1999 Conserved aromatic residues of the C-terminus of human butyrylcholinesterase mediate the association of tetramers.
10441569 1999 Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?
9758617 1998 Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).
9689136 1998 Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.