OSGEP Chromosome 14
O-sialoglycoprotein endopeptidase
Upload your DNA to see your personal genotypes for variants in OSGEP.
What This Gene Does
Enables N(6)-L-threonylcarbamoyladenine synthase activity. Involved in tRNA threonylcarbamoyladenosine modification. Located in cytosol and nucleoplasm. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 3. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
KEOPS complex
Locus Type
gene with protein product
Location
14q11.2
Ensembl
ENSG00000092094
Associated Conditions (7)
OSGEP-related disorder
Galloway-Mowat syndrome 3
Inborn genetic diseases
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Nephrotic syndrome
Galloway-Mowat syndrome
See cases
Key Variants
RS147548960
Conflicting classifications of pathogenicity
OSGEP-related disorder, OSGEP-related disorder
Health Risk
RS200126749
Conflicting classifications of pathogenicity
Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3
Health Risk
RS749843747
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS761839638
Conflicting classifications of pathogenicity
Galloway-Mowat syndrome 3, Inborn genetic diseases, Galloway-Mowat syndrome 3
Health Risk
RS1166790792
Likely pathogenic
Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3
Health Risk
RS140583554
Likely pathogenic
Inborn genetic diseases, Galloway-Mowat syndrome 3, Inborn genetic diseases
Health Risk
RS140696201
Likely pathogenic
Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3
Health Risk
RS1417690595
Likely pathogenic
Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3
Health Risk
RS1443735811
Likely pathogenic
Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3
Health Risk
RS144732839
Likely pathogenic
Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3
Health Risk
RS1566507605
Likely pathogenic
Galloway-Mowat syndrome 3, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Galloway-Mowat syndrome 3
Health Risk
RS1881216647
Likely pathogenic
Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147548960 | Health Risk | Conflicting classifications of pathogenicity | OSGEP-related disorder, OSGEP-related disorder |
| RS200126749 | Health Risk | Conflicting classifications of pathogenicity | Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3 |
| RS749843747 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS761839638 | Health Risk | Conflicting classifications of pathogenicity | Galloway-Mowat syndrome 3, Inborn genetic diseases, Galloway-Mowat syndrome 3 |
| RS1166790792 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3 |
| RS140583554 | Health Risk | Likely pathogenic | Inborn genetic diseases, Galloway-Mowat syndrome 3, Inborn genetic diseases |
| RS140696201 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3 |
| RS1417690595 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3 |
| RS1443735811 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3 |
| RS144732839 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3 |
| RS1566507605 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 3, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Galloway-Mowat syndrome 3 |
| RS1881216647 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3 |
| RS200347983 | Health Risk | Likely pathogenic | — |
| RS2139289899 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3 |
| RS2501747943 | Health Risk | Likely pathogenic | — |
| RS2501756695 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3 |
| RS374322839 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 3, Inborn genetic diseases, Galloway-Mowat syndrome 3 |
| RS780944919 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3 |
| RS1555331969 | Health Risk | Pathogenic | Galloway-Mowat syndrome 3, Nephrotic syndrome, Galloway-Mowat syndrome 3 |
| RS2139289081 | Health Risk | Pathogenic | — |
| RS2501763022 | Health Risk | Pathogenic | — |
| RS551255070 | Health Risk | Pathogenic | — |
| RS753237335 | Health Risk | Pathogenic | Galloway-Mowat syndrome 3, Galloway-Mowat syndrome, Galloway-Mowat syndrome 3 |
| RS140076803 | Health Risk | Pathogenic/Likely pathogenic | Galloway-Mowat syndrome 3, See cases, OSGEP-related disorder |
| RS773173317 | Health Risk | Pathogenic/Likely pathogenic | Galloway-Mowat syndrome 3, Nephrotic syndrome, Inborn genetic diseases |