EOGT
Summary: 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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:614789 Ensembl IDEnsembl:ENSG00000163378 HGNC IDHGNC:HGNC:28526 PHARMGKB IDPA143485338 Map Location3p14.1 | |||||
GO terms in EOGT
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | ISS | GO:0016262 | protein N-acetylglucosaminyltransferase activity |
| BP | ISS | GO:0006493 | protein O-linked glycosylation |
| CC | IEA | GO:0005788 | endoplasmic reticulum lumen |
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Gene expression in normal tissue: EOGT
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in EOGT
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa00514 | Other types of O-glycan biosynthesis - Homo sapiens (human) |
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Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in EOGT
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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