EOGT

EOGT
Identifiers
Aliases	EOGT, AER61, AOS4, C3orf64, EOGT1, EGF domain specific O-linked N-acetylglucosamine transferase
External IDs	OMIM: 614789; MGI: 2141669; GeneCards: EOGT
Enzyme activity
Gene location (Human)
Chr.	Chromosome 3 (human)
End	69,013,684 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	97,149,182 bp
RNA expression pattern
	Top expressed in
	thoracic aorta; ; ascending aorta; ; right coronary artery; ; Descending thoracic aorta; ; right lung; ; tibial arteries; ; Achilles tendon; ; gastric mucosa; ; left coronary artery; ; secondary oocyte;
	Top expressed in
	tail of embryo; ; iris; ; ciliary body; ; hair follicle; ; aortic valve; ; stria vascularis; ; decidua; ; ascending aorta; ; left lung lobe; ; gastrula;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity; protein N-acetylglucosaminyltransferase activity; glycosyltransferase activity;
Cellular component	endoplasmic reticulum lumen; endoplasmic reticulum;
Biological process	protein O-linked glycosylation;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	285203
	101351
	ENSG00000163378
	ENSMUSG00000035245
	Q5NDL2
	Q8BYW9
	NM_001278689; NM_173654
	NM_175313
	NP_001265618; NP_775925
	NP_780522
	Wikidata
View/Edit Human	View/Edit Mouse

EGF domain-specific O-linked N-acetylglucosamine transferase (EOGT) is an enzyme that in humans is encoded by the gene EOGT. Like the related enzyme OGT, this enzyme functions as a protein O-GlcNAc transferase, meaning it modifies proteins by transferring an N-acetylglucosamine to a threonine or serine residue. EOGT specifically glycosylates a particular threonine residue located in folded EGF-like domains (located between the fifth and sixth conserved cysteines). It is located inside the lumen of the endoplasmic reticulum, and may play an important role in notch signaling.

Medical Significance

Pathogenic mutations in EOGT are associated with Adams-Oliver syndrome, a disorder associated with aplasia cutis congenita (patches of missing skins), and defects in the extremities like missing finger nails or the last (distal) finger bone in fingers. The EOGT-liked form has been designated Adams-Oliver syndrome-4 (AOS4), and appears to follow an autosomal receptive pattern.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000163378 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000035245 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 3 4 "EGF domain-specific O-linked N-acetylglucosamine transferase". uniprot.org. UniProt consortium. Retrieved 2026-10-25.
↑ Varshney S, Stanley P (2017-04-15). "EOGT and O-GlcNAc on secreted and membrane proteins" (PDF). Biochemical Society Transactions. 45 (2): 401–8. doi:10.1042/BST20160165.
1 2 O'Neil MJ, Vernon HJ (2026-01-16). "ADAMS-OLIVER SYNDROME 4; AOS4". OMIM. Johns Hopkins university. Retrieved 2026-10-25.

This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000163378 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000035245 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[uniprot-5] 1 2 3 4 "EGF domain-specific O-linked N-acetylglucosamine transferase". uniprot.org. UniProt consortium. Retrieved 2026-10-25.

[Varshney2017-6] Varshney S, Stanley P (2017-04-15). "EOGT and O-GlcNAc on secreted and membrane proteins" (PDF). Biochemical Society Transactions. 45 (2): 401–8. doi:10.1042/BST20160165.

[omim-7] 1 2 O'Neil MJ, Vernon HJ (2026-01-16). "ADAMS-OLIVER SYNDROME 4; AOS4". OMIM. Johns Hopkins university. Retrieved 2026-10-25.