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Gene : EOGT Homo sapiens

Name  ? EGF domain specific O-linked N-acetylglucosamine transferase Cytological Location  3p14.1
Brief Description  EGF domain specific O-linked N-acetylglucosamine transferase
Description  This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
  • synonyms:
  • FLJ33770,
  • OTTHUMG00000156279,
  • NM_173654,
  • AK091089,
  • C3orf64,
  • EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase,
  • AER61,
  • EOGT1,
  • HGNC:28526,
  • C3orf64,
  • AER61 glycosyltransferase,
  • AER61,
  • EOGT,
  • chromosome 3 open reading frame 64,
  • AOS4,
  • uc003dnl.5
  • identifiers:
  • 285203,
  • ENSG00000163378,
  • EOGT

Genome feature

Region: gene ? Length: 38742  
Location: 3:68975220-69013961 reverse strand Cyto location: 3p14.1


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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 --> Chromosomal location.

Gene --> GO terms.

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

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results