EOGT (EGF Domain Specific O-Linked N-Acetylglucosamine Transferase)
Gene encoding an enzyme involved in O-GlcNAcylation of EGF domains, linked to Adams-Oliver syndrome and cancer.
Gene Information Card
| Symbol | EOGT |
|---|---|
| Full Name | EGF domain specific O-linked N-acetylglucosamine transferase |
| Gene Type | Protein coding |
| Chromosomal Location | 3p14.1 |
| NCBI Gene ID | 285203 ncbi.nlm.nih.gov/gene/285203 |
| Ensembl ID | ENSG00000163378 |
| UniProt ID | Q5NDL2 |
| OMIM ID | 614789 |
| HGNC ID | 28526 |
| Aliases | AOS4, EOGT1, FLJ21986 |
Description
The EOGT gene encodes an enzyme that catalyzes the transfer of N-acetylglucosamine (O-GlcNAc) to serine or threonine residues within EGF-like domains of proteins. This post-translational modification is critical for proper protein folding, trafficking, and function. EOGT is essential for Notch signaling and vascular development. Mutations in EOGT cause autosomal recessive Adams-Oliver syndrome 4 (AOS4), characterized by scalp defects and limb abnormalities. Altered expression is also observed in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Adams-Oliver syndrome 4 (AOS4) | Loss-of-function mutations in EOGT impair O-GlcNAcylation of EGF domains, disrupting Notch signaling and leading to developmental defects in the skin, limbs, and vasculature. | OMIM #614789; PMID: 23929203 |
| Cancer (general) | Dysregulation of EOGT expression and O-GlcNAcylation affects Notch and other signaling pathways, potentially promoting tumor growth and metastasis. | COSMIC; PMID: 31588035 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 5.2 | Medium |
| Brain | 3.8 | Low |
| Lung | 4.1 | Low |
| Liver | 2.9 | Low |
| Kidney | 6.0 | Medium |
| Placenta | 7.5 | Medium |
| Testis | 8.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.5 | Embryonic kidney cells; moderate expression |
| HeLa | 4.2 | Cervical cancer cells; low expression |
| HepG2 | 3.1 | Hepatocellular carcinoma; low expression |
| K562 | 5.8 | Leukemia cells; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1078C>T (p.Arg360*) | Nonsense | Rare | Loss of function; associated with Adams-Oliver syndrome |
| c.1240G>A (p.Gly414Arg) | Missense | Rare | Loss of function; disrupts catalytic activity |
| c.1462C>T (p.Arg488Trp) | Missense | Rare | Loss of function; impairs substrate binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Arg360*, p.Gly414Arg) lead to reduced or absent enzymatic activity, causing Adams-Oliver syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported in EOGT.
Dominant Negative (DN)
No dominant-negative mutations reported in EOGT.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling (Reactome: R-HSA-157118)
• O-linked glycosylation of EGF domains (Reactome: R-HSA-5173214)
Protein Summary
EOGT is a 508-amino acid type II transmembrane protein localized to the endoplasmic reticulum. It belongs to the GT41 family of glycosyltransferases and specifically adds O-GlcNAc to EGF-like domains. The protein contains a catalytic domain and a transmembrane region. Its activity is essential for proper Notch receptor maturation and signaling, influencing cell fate decisions during development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EOGT Knockout HEK293 Cell Line | EDJ-KQ13296 | Human | 285203 | Details Get a Quote |
| EOGT Knockout A-549 Cell Line | EDJ-KQ42740 | Human | 285203 | Details Get a Quote |
| EOGT Knockout HCT 116 Cell Line | EDJ-KQ42741 | Human | 285203 | Details Get a Quote |
| EOGT Knockout HeLa Cell Line | EDJ-KQ42742 | Human | 285203 | Details Get a Quote |
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