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Gene : COG2 Homo sapiens

Name  ? component of oligomeric golgi complex 2 Cytological Location  1q42.2
Brief Description  component of oligomeric golgi complex 2
Description  This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts with the USO1 vesicle docking protein and may be necessary for normal Golgi ribbon formation and trafficking of Golgi enzymes. Mutations of this gene are associated with abnormal glycosylation within the Golgi apparatus. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]
  • synonyms:
  • low density lipoprotein receptor defect C complementing,
  • LDLC,
  • NM_007357,
  • LDLC,
  • OTTHUMG00000037753,
  • HGNC:6546,
  • uc001htw.4,
  • CDG2Q,
  • COG2,
  • Z34975
  • identifiers:
  • 22796,
  • ENSG00000135775,
  • COG2

Genome feature

Region: gene ? Length: 51502  
Location: 1:230642481-230693982 Cyto location: 1q42.2


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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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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Interactions

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Expression

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

Gene Ontology

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Other

788 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results