POGLUT1 Chromosome 3
Protein O-glucosyltransferase 1
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What This Gene Does
This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Gene Info
Gene Group
Glycosyltransferase family 90
Locus Type
gene with protein product
Location
3q13.33
Ensembl
ENSG00000163389
Associated Conditions (6)
Autosomal recessive limb-girdle muscular dystrophy type 2R1
Inborn genetic diseases
Sarcoma
Gastric cancer
POGLUT1-related disorder
Dowling-Degos disease 4
Key Variants
RS1015531524
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2R1, Autosomal recessive limb-girdle muscular dystrophy type 2R1
Health Risk
RS117423733
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140695299
Conflicting classifications of pathogenicity
Health Risk
RS147674217
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200853598
Conflicting classifications of pathogenicity
Sarcoma, Gastric cancer, Sarcoma
Health Risk
RS747897279
Conflicting classifications of pathogenicity
POGLUT1-related disorder, POGLUT1-related disorder
Health Risk
RS751780827
Conflicting classifications of pathogenicity
Health Risk
RS763045710
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS762277732
Likely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2R1, Autosomal recessive limb-girdle muscular dystrophy type 2R1
Health Risk
RS905629792
Likely pathogenic
Health Risk
RS1161535903
Pathogenic
Health Risk
RS1175589172
Pathogenic
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1015531524 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2R1, Autosomal recessive limb-girdle muscular dystrophy type 2R1 |
| RS117423733 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS140695299 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147674217 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200853598 | Health Risk | Conflicting classifications of pathogenicity | Sarcoma, Gastric cancer, Sarcoma |
| RS747897279 | Health Risk | Conflicting classifications of pathogenicity | POGLUT1-related disorder, POGLUT1-related disorder |
| RS751780827 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763045710 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762277732 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2R1, Autosomal recessive limb-girdle muscular dystrophy type 2R1 |
| RS905629792 | Health Risk | Likely pathogenic | — |
| RS1161535903 | Health Risk | Pathogenic | — |
| RS1175589172 | Health Risk | Pathogenic | — |
| RS2473027178 | Health Risk | Pathogenic | — |
| RS2473027210 | Health Risk | Pathogenic | — |
| RS2473040267 | Health Risk | Pathogenic | — |
| RS550944082 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2R1, Autosomal recessive limb-girdle muscular dystrophy type 2R1 |
| RS587777294 | Health Risk | Pathogenic | Dowling-Degos disease 4, Dowling-Degos disease 4 |
| RS587777295 | Health Risk | Pathogenic | Dowling-Degos disease 4, Dowling-Degos disease 4 |
| RS587777296 | Health Risk | Pathogenic | Dowling-Degos disease 4, Dowling-Degos disease 4 |
| RS765065009 | Health Risk | Pathogenic | — |
| RS1560034617 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2R1, Autosomal recessive limb-girdle muscular dystrophy type 2R1 |
| RS587777293 | Health Risk | Pathogenic/Likely pathogenic | Dowling-Degos disease 4, Dowling-Degos disease 4 |
| RS776542098 | Health Risk | Pathogenic/Likely pathogenic | — |