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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
EGF domain specific O-linked N-acetylglucosamine transferase
Summary
- Gene Symbol
-
- EOGT
- Aliases
-
- AER61
- AER61 glycosyltransferase
- FLJ33770
- Organism
- Homo sapiens (human)
External Links
- NCBI Gene
- 285203
- GGDB ID
- HGNC
- 28526
- mRNA
- Protein
- OMIM
- KEGG Gene ID
- hsa:285203
- PubChem
- 285203
- Alliance of Genome Resources
Annotation
- Keyword
-
- Alternative splicing
- Disease variant
- Endoplasmic reticulum
- Glycoprotein
- Glycosyltransferase
- Reference proteome
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| Q5NDL2 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein O-GlcNAcylation via threonine | ||
| protein O-linked glycosylation |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum lumen |
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein O-acetylglucosaminyltransferase activity |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
GlycoGene Database (GGDB)
- GGDB ID
- gg210
- Gene Symbol
-
- EOGT
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060227 | Adams-Oliver syndrome | |
| DOID:0080212 | polycystic kidney disease 4 | |
| DOID:0110861 | autosomal recessive polycystic kidney disease | |
| DOID:1059 | intellectual disability | |
| DOID:10629 | microphthalmia | |
| DOID:10762 | portal hypertension | |
| DOID:10908 | hydrocephalus | |
| DOID:11294 | arteriovenous malformation | |
| DOID:11832 | visual epilepsy | |
| DOID:11836 | clubfoot |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000238 | Hydrocephalus |
| HP:0000486 | Strabismus |
| HP:0000518 | Cataract |
| HP:0000568 | Microphthalmia |
| HP:0000965 | Cutis marmorata |
| HP:0001057 | Aplasia cutis congenita |
| HP:0001156 | Brachydactyly |
| HP:0001171 | Split hand |
| HP:0001249 | Intellectual disability |
| Disease ID | Disease Name |
|---|---|
| ORPHA:974 |
|
| OMIM:615297 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 179990 | WB:WBGene00010386 | ||
| 33424 | FB:FBgn0264672 | ||
| 497240 | CIOIN10572 | ||
| 100176976 | CIOIN11969 | ||
| 103179783 | CALMI18675 | ||
| 102352761 | LATCH14165 | ||
| 798087 | ZFIN:ZDB-GENE-120813-8 | DANRE02633 | |
| 103044264 | ASTMX10746 | ||
| 108254783 | ICTPU16072 | ||
| 113580746 | ELEEL25094 |
