XYLT2 Chromosome 17
Xylosyltransferase 2
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What This Gene Does
The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
Gene Info
Gene Group
Glucosaminyl (N-acetyl) transferases/xylosyltransferases
Locus Type
gene with protein product
Location
17q21.33
Ensembl
ENSG00000015532
Associated Conditions (7)
Osteogenesis imperfecta
XYLT2-related disorder
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
Spondylo-ocular syndrome
Key Variants
RS140443495
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, XYLT2-related disorder, Osteogenesis imperfecta
Health Risk
RS144474638
Conflicting classifications of pathogenicity
Inborn genetic diseases, XYLT2-related disorder, Inborn genetic diseases
Health Risk
RS147148985
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, XYLT2-related disorder, Osteogenesis imperfecta
Health Risk
RS199705453
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, XYLT2-related disorder, Osteogenesis imperfecta
Health Risk
RS201333400
Conflicting classifications of pathogenicity
Inborn genetic diseases, XYLT2-related disorder, Inborn genetic diseases
Health Risk
RS377456488
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, XYLT2-related disorder, Osteogenesis imperfecta
Health Risk
RS571962145
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, XYLT2-related disorder, Inborn genetic diseases
Health Risk
RS750349082
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Osteogenesis imperfecta
Health Risk
RS754679651
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS762208911
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS764731332
Conflicting classifications of pathogenicity
Inborn genetic diseases, Thyroid cancer, nonmedullary
Health Risk
RS778642140
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, XYLT2-related disorder, Osteogenesis imperfecta
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140443495 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, XYLT2-related disorder, Osteogenesis imperfecta |
| RS144474638 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, XYLT2-related disorder, Inborn genetic diseases |
| RS147148985 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, XYLT2-related disorder, Osteogenesis imperfecta |
| RS199705453 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, XYLT2-related disorder, Osteogenesis imperfecta |
| RS201333400 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, XYLT2-related disorder, Inborn genetic diseases |
| RS377456488 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, XYLT2-related disorder, Osteogenesis imperfecta |
| RS571962145 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, XYLT2-related disorder, Inborn genetic diseases |
| RS750349082 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS754679651 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762208911 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS764731332 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Thyroid cancer, nonmedullary |
| RS778642140 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, XYLT2-related disorder, Osteogenesis imperfecta |
| RS1423415130 | Health Risk | Likely pathogenic | Spondylo-ocular syndrome, Spondylo-ocular syndrome |
| RS150417924 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1912543391 | Health Risk | Likely pathogenic | Spondylo-ocular syndrome, Spondylo-ocular syndrome |
| RS1912519918 | Health Risk | Pathogenic | — |
| RS1912636978 | Health Risk | Pathogenic | — |
| RS2543952851 | Health Risk | Pathogenic | — |
| RS2543964027 | Health Risk | Pathogenic | — |
| RS775198482 | Health Risk | Pathogenic | — |
| RS797044806 | Health Risk | Pathogenic | Spondylo-ocular syndrome, Inborn genetic diseases, Spondylo-ocular syndrome |
| RS797044807 | Health Risk | Pathogenic | Spondylo-ocular syndrome, Spondylo-ocular syndrome |
| RS779864368 | Health Risk | Pathogenic/Likely pathogenic | Spondylo-ocular syndrome, Spondylo-ocular syndrome, Spondylo-ocular syndrome |