AlphaFold predicted structure
EOGT · Q5NDL2
Mean pLDDT
91.5/ 100
Very high
527 residues
Confidence breakdown
- Very high(≥ 90)83%
- Confident(70–90)10%
- Low(50–70)1%
- Very low(< 50)6%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
EOGT
Chr 3p14.1EGF domain specific O-linked N-acetylglucosamine transferase
- Aliases:
- AER61, FLJ33770
- MANE:
- ENST00000383701.8
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Clefting
BIALLELIC, autosomal or pseudoautosomalCongenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalLimb disorders
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
Adams-Oliver syndrome
0.80hereditary disease
0.19retinitis pigmentosa
0.07Familial exudative vitreoretinopathy
0.07Cone rod dystrophy
0.06Leber congenital amaurosis
0.06central areolar choroidal dystrophy
0.06age-related macular degeneration
0.05Juvenile glaucoma
0.05angioma serpiginosum
0.05
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
EGF domain-specific O-linked N-acetylglucosamine transferase
Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in extracellular proteins resulting in their modification with a beta-linked N-acetylglucosamine (O-GlcNAc). Specifically glycosylates the Thr residue located between the fifth and sixth conserved cysteines of folded EGF-like domains