Identity
HGNC
LOCATION
17q21.33
LOCUSID
ALIAS
PXYLT2,SOS,XT-II,XT2,xylT-II
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 64132
MIM: 608125
HGNC: 15517
Ensembl: ENSG00000015532
Variants:
dbSNP: 64132
ClinVar: 64132
TCGA: ENSG00000015532
COSMIC: XYLT2
RNA/Proteins
Expression (GTEx)
Pathways
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443622 | Carcinoma, Non-Small-Cell Lung | Disease | ClinicalAnnotation | associated | PD | 31616045 | |
| PA445846 | Thrombocytopenia | Disease | ClinicalAnnotation | associated | PD | 31616045 | |
| PA448803 | carboplatin | Chemical | ClinicalAnnotation | associated | PD | 31616045 | |
| PA449748 | gemcitabine | Chemical | ClinicalAnnotation | associated | PD | 31616045 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33609631 | 2021 | Development of a xylosyltransferase-I-selective UPLC MS/MS activity assay using a specific acceptor peptide. | 3 |
| 33609631 | 2021 | Development of a xylosyltransferase-I-selective UPLC MS/MS activity assay using a specific acceptor peptide. | 3 |
| 31677793 | 2020 | Xylosyltransferase-deficient human HEK293 cells show a strongly reduced proliferation capacity and viability. | 3 |
| 31973761 | 2020 | Expression of xylosyltransferases I and II and their role in the pathogenesis of arthrofibrosis. | 6 |
| 31677793 | 2020 | Xylosyltransferase-deficient human HEK293 cells show a strongly reduced proliferation capacity and viability. | 3 |
| 31973761 | 2020 | Expression of xylosyltransferases I and II and their role in the pathogenesis of arthrofibrosis. | 6 |
| 30496831 | 2019 | Intrafamilial variability of XYLT2-related spondyloocular syndrome. | 7 |
| 30496831 | 2019 | Intrafamilial variability of XYLT2-related spondyloocular syndrome. | 7 |
| 29136277 | 2018 | Homozygous XYLT2 variants as a cause of spondyloocular syndrome. | 16 |
| 29136277 | 2018 | Homozygous XYLT2 variants as a cause of spondyloocular syndrome. | 16 |
| 26987875 | 2016 | Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum. | 20 |
| 27871115 | 2016 | Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes. | 12 |
| 26987875 | 2016 | Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum. | 20 |
| 27871115 | 2016 | Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes. | 12 |
| 25704086 | 2015 | Identification and characterization of human xylosyltransferase II promoter single nucleotide variants. | 0 |
Citation
Dessen P
XYLT2 (xylosyltransferase 2)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/42852/xylt2-(xylosyltransferase-2)
