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Gene : COLQ Homo sapiens

Name  ? collagen like tail subunit of asymmetric acetylcholinesterase Cytological Location  3p25.1
Brief Description  collagen like tail subunit of asymmetric acetylcholinesterase
Description  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]
  • synonyms:
  • collagenic tail of endplate acetylcholinesterase,
  • acetylcholinesterase-associated collagen,
  • single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase,
  • AChE Q subunit,
  • EAD,
  • NM_005677,
  • EAD,
  • AF057036,
  • CMS5,
  • COLQ,
  • collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase,
  • OTTHUMG00000156233,
  • HGNC:2226,
  • uc003bzx.3
  • identifiers:
  • 8292,
  • ENSG00000206561,
  • COLQ

Genome feature

Region: gene ? Length: 71574  
Location: 3:15450133-15521706 reverse strand Cyto location: 3p25.1


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results