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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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EOGT
EGF domain specific O-linked N-acetylglucosamine transferase
Chromosome 3 Β· 3p14.1
NCBI Gene: 285203Ensembl: ENSG00000163378.14HGNC: HGNC:28526UniProt: B3KR71
33PubMed Papers
21Diseases
0Drugs
13Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein O-acetylglucosaminyltransferase activityprotein O-linked glycosylationendoplasmic reticulum lumenglycosyltransferase activityAdams-Oliver syndromegenetic disorderinsomniaFamilial exudative vitreoretinopathy
✦AI Summary

EOGT (EGF domain-specific O-linked N-acetylglucosamine transferase) is an endoplasmic reticulum-resident glycosyltransferase that catalyzes the transfer of N-acetylglucosamine from UDP-GlcNAc to serine or threonine residues within EGF-like domains of secreted and membrane proteins 1. Specifically, EOGT modifies the threonine residue positioned between the fifth and sixth conserved cysteines of folded EGF domains 2. This modification is distinct from cytoplasmic O-GlcNAc transferase (OGT), as EOGT operates exclusively in the ER lumen 1. A major substrate of EOGT is Notch receptor, whose 29-36 EGF repeats undergo O-GlcNAc modification to potentiate Delta-like ligand-mediated Notch signaling, thereby regulating vascular development and cell-fate specifications 3, 2. Loss-of-function mutations in EOGT cause Adams-Oliver syndrome, a congenital disorder characterized by abnormal vascular development 1, 3. Beyond developmental roles, EOGT exhibits oncogenic functions. EOGT is upregulated in hepatocellular carcinoma and pancreatic cancer, where it promotes proliferation and migration through Notch pathway activation 4, 5. In HCC, EOGT knockdown enhances ferroptosis sensitivity via the HEY1-SLC7A11 axis and serves as a prognostic biomarker correlating with immune suppression and poor outcomes 4, 6.

Sources cited
1
EOGT transfers GlcNAc to Ser/Thr in EGF-like domains of secreted and membrane proteins, distinct from cytoplasmic OGT
PMID: 28408480
2
EOGT catalyzes O-GlcNAcylation in the ER lumen and regulates Notch signaling in endothelial cells; mutations cause Adams-Oliver syndrome
PMID: 30669087
3
EOGT adds O-GlcNAc to Notch EGF repeats; autosomal recessive mutations cause Adams-Oliver syndrome
PMID: 33341260
4
EOGT is upregulated in HCC and promotes proliferation by inhibiting ferroptosis through the HEY1-SLC7A11 axis
PMID: 40154588
5
EOGT expression correlates with Notch signaling genes in pancreatic cancer; EOGT knockdown inhibits proliferation and migration
PMID: 33562410
6
EOGT is elevated in HCC, correlates with poor prognosis, and is associated with immune suppression and exhausted T cells
PMID: 35069551
Disease Associationsβ“˜21
Adams-Oliver syndromeOpen Targets
0.80Strong
genetic disorderOpen Targets
0.19Weak
insomniaOpen Targets
0.05Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
exudative vitreoretinopathy 2, X-linkedOpen Targets
0.03Suggestive
gastrointestinal diseaseOpen Targets
0.03Suggestive
exudative vitreoretinopathyOpen Targets
0.03Suggestive
infectious meningitisOpen Targets
0.03Suggestive
pregnancy disorderOpen Targets
0.03Suggestive
endocrine neoplasmOpen Targets
0.02Suggestive
breast carcinomaOpen Targets
0.02Suggestive
ovarian dysfunctionOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
multiple sclerosisOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
childhood supratentorial ependymomaOpen Targets
0.01Suggestive
transitional cell carcinoma of kidneyOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
acute quadriplegic myopathyOpen Targets
0.01Suggestive
Adams-Oliver syndrome 4UniProt
Pathogenic Variants13
NM_001278689.2(EOGT):c.1074del (p.Gly359fs)Pathogenic
Adams-Oliver syndrome 4|Adams-Oliver syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 359
NM_001278689.2(EOGT):c.78_81del (p.His27fs)Pathogenic
Adams-Oliver syndrome 4
β˜…β˜…β˜†β˜†2024β†’ Residue 27
NM_001278689.2(EOGT):c.621-2A>TPathogenic
Adams-Oliver syndrome 4|not provided
β˜…β˜…β˜†β˜†2022
NM_001278689.2(EOGT):c.196_199del (p.Leu66fs)Pathogenic
Adams-Oliver syndrome 4
β˜…β˜†β˜†β˜†2025β†’ Residue 66
NM_001278689.2(EOGT):c.961del (p.Arg321fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 321
NM_001278689.2(EOGT):c.831+1G>ALikely pathogenic
Adams-Oliver syndrome 4
β˜…β˜†β˜†β˜†2025
NM_001278689.2(EOGT):c.1234C>T (p.Gln412Ter)Pathogenic
Adams-Oliver syndrome 4
β˜…β˜†β˜†β˜†2023β†’ Residue 412
NM_001278689.2(EOGT):c.831+2T>CLikely pathogenic
Adams-Oliver syndrome 4
β˜…β˜†β˜†β˜†2017
NM_001278689.2(EOGT):c.311+1G>TPathogenic
Adams-Oliver syndrome 4
β˜…β˜†β˜†β˜†2017
NM_001278689.2(EOGT):c.404G>A (p.Cys135Tyr)Pathogenic
Adams-Oliver syndrome 4
β˜…β˜†β˜†β˜†2017β†’ Residue 135
NM_001278689.2(EOGT):c.1335-1G>APathogenic
Adams-Oliver syndrome 4|Familial cancer of breast
β˜…β˜†β˜†β˜†2017
NM_001278689.2(EOGT):c.1130G>A (p.Arg377Gln)Pathogenic
Adams-Oliver syndrome 4
β˜†β˜†β˜†β˜†2013β†’ Residue 377
NM_001278689.2(EOGT):c.620G>C (p.Trp207Ser)Pathogenic
Adams-Oliver syndrome 4
β˜†β˜†β˜†β˜†2013β†’ Residue 207
View on ClinVar β†—
Related Genes
C1GALT1C1Shared pathway100%C1GALT1C1LShared pathway100%OGTProtein interaction97%POFUT1Protein interaction78%DOCK6Protein interaction71%POGLUT1Protein interaction58%
Tissue Expression6 tissues
Lung
100%
Heart
63%
Ovary
37%
Bone Marrow
33%
Brain
17%
Liver
16%
Gene Interaction Network
Click a node to explore
EOGTC1GALT1C1C1GALT1C1LOGTPOFUT1DOCK6POGLUT1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5NDL2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.79 [0.57–1.12]
RankingsWhere EOGT stands among ~20K protein-coding genes
  • #11,330of 20,598
    Most Researched33
  • #2,631of 5,498
    Most Pathogenic Variants13
  • #11,560of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedEOGT
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
EOGT and
PMID: 28408480
Biochem Soc Trans Β· 2017
1.00
2
Diseases related to Notch glycosylation.
PMID: 33341260
Mol Aspects Med Β· 2021
0.90
3
Structure and function of extracellular O-GlcNAc.
PMID: 30669087
Curr Opin Struct Biol Β· 2019
0.80
4
EOGT knockdown promotes ferroptosis and inhibits hepatocellular carcinoma proliferation by regulating SLC7A11 via HEY1.
PMID: 40154588
Cell Signal Β· 2025
0.70
5
N-acetylglucosamine modification in the lumen of the endoplasmic reticulum.
PMID: 25791024
Biochim Biophys Acta Β· 2015
0.60