EOGT Chromosome 3
EGF domain specific O-linked N-acetylglucosamine transferase
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What This Gene Does
This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
O-linked N-acetylglucosaminyltransferases
Locus Type
gene with protein product
Location
3p14.1
Ensembl
ENSG00000163378
Associated Conditions (4)
Adams-Oliver syndrome 4
Inborn genetic diseases
Familial cancer of breast
Adams-Oliver syndrome
Key Variants
RS116711473
Conflicting classifications of pathogenicity
Adams-Oliver syndrome 4, Adams-Oliver syndrome 4
Health Risk
RS139295083
Conflicting classifications of pathogenicity
Adams-Oliver syndrome 4, Inborn genetic diseases, Adams-Oliver syndrome 4
Health Risk
RS764559304
Conflicting classifications of pathogenicity
Adams-Oliver syndrome 4, Inborn genetic diseases, Adams-Oliver syndrome 4
Health Risk
RS1559604548
Likely pathogenic
Adams-Oliver syndrome 4, Adams-Oliver syndrome 4
Health Risk
RS746076695
Likely pathogenic
Adams-Oliver syndrome 4, Adams-Oliver syndrome 4
Health Risk
RS1247059195
Pathogenic
Adams-Oliver syndrome 4, Adams-Oliver syndrome 4
Health Risk
RS1379880963
Pathogenic
Adams-Oliver syndrome 4, Adams-Oliver syndrome 4
Health Risk
RS185181819
Pathogenic
Adams-Oliver syndrome 4, Familial cancer of breast, Adams-Oliver syndrome 4
Health Risk
RS369583084
Pathogenic
Adams-Oliver syndrome 4, Adams-Oliver syndrome 4
Health Risk
RS587776993
Pathogenic
Adams-Oliver syndrome 4, Adams-Oliver syndrome 4
Health Risk
RS587776995
Pathogenic
Adams-Oliver syndrome 4, Adams-Oliver syndrome 4
Health Risk
RS771160630
Pathogenic
Adams-Oliver syndrome 4, Adams-Oliver syndrome 4
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116711473 | Health Risk | Conflicting classifications of pathogenicity | Adams-Oliver syndrome 4, Adams-Oliver syndrome 4 |
| RS139295083 | Health Risk | Conflicting classifications of pathogenicity | Adams-Oliver syndrome 4, Inborn genetic diseases, Adams-Oliver syndrome 4 |
| RS764559304 | Health Risk | Conflicting classifications of pathogenicity | Adams-Oliver syndrome 4, Inborn genetic diseases, Adams-Oliver syndrome 4 |
| RS1559604548 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 4, Adams-Oliver syndrome 4 |
| RS746076695 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 4, Adams-Oliver syndrome 4 |
| RS1247059195 | Health Risk | Pathogenic | Adams-Oliver syndrome 4, Adams-Oliver syndrome 4 |
| RS1379880963 | Health Risk | Pathogenic | Adams-Oliver syndrome 4, Adams-Oliver syndrome 4 |
| RS185181819 | Health Risk | Pathogenic | Adams-Oliver syndrome 4, Familial cancer of breast, Adams-Oliver syndrome 4 |
| RS369583084 | Health Risk | Pathogenic | Adams-Oliver syndrome 4, Adams-Oliver syndrome 4 |
| RS587776993 | Health Risk | Pathogenic | Adams-Oliver syndrome 4, Adams-Oliver syndrome 4 |
| RS587776995 | Health Risk | Pathogenic | Adams-Oliver syndrome 4, Adams-Oliver syndrome 4 |
| RS771160630 | Health Risk | Pathogenic | Adams-Oliver syndrome 4, Adams-Oliver syndrome 4 |
| RS1312622774 | Health Risk | Pathogenic/Likely pathogenic | Adams-Oliver syndrome 4, Adams-Oliver syndrome 4 |
| RS587776994 | Health Risk | Pathogenic/Likely pathogenic | Adams-Oliver syndrome 4, Adams-Oliver syndrome, Adams-Oliver syndrome 4 |