XYLT2 (xylosyltransferase 2)

2003-05-01  

Identity

HGNC
XYLT2
LOCATION
17q21.33
LOCUSID
64132
ALIAS
PXYLT2,SOS,XT-II,XT2,xylT-II
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 64132
MIM: 608125
HGNC: 15517
Ensembl: ENSG00000015532

Variants:

dbSNP: 64132
ClinVar: 64132
TCGA: ENSG00000015532
COSMIC: XYLT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000015532ENST00000017003Q9H1B5
ENSG00000015532ENST00000376550A0A0C4DFW8
ENSG00000015532ENST00000507602B4DT06
ENSG00000015532ENST00000509778D6RCT0
ENSG00000015532ENST00000511654H0YB00
ENSG00000015532ENST00000574840I3L3K2

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfateKEGGko00532
Glycosaminoglycan biosynthesis - heparan sulfate / heparinKEGGko00534
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfateKEGGhsa00532
Glycosaminoglycan biosynthesis - heparan sulfate / heparinKEGGhsa00534
Metabolic pathwaysKEGGhsa01100
Glycosaminoglycan biosynthesis, linkage tetrasaccharideKEGGhsa_M00057
Glycosaminoglycan biosynthesis, linkage tetrasaccharideKEGGM00057
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Heparan sulfate/heparin (HS-GAG) metabolismREACTOMER-HSA-1638091
A tetrasaccharide linker sequence is required for GAG synthesisREACTOMER-HSA-1971475
Chondroitin sulfate/dermatan sulfate metabolismREACTOMER-HSA-1793185

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotationassociatedPD31616045
PA445846ThrombocytopeniaDiseaseClinicalAnnotationassociatedPD31616045
PA448803carboplatinChemicalClinicalAnnotationassociatedPD31616045
PA449748gemcitabineChemicalClinicalAnnotationassociatedPD31616045

References

Pubmed IDYearTitleCitations
336096312021Development of a xylosyltransferase-I-selective UPLC MS/MS activity assay using a specific acceptor peptide.3
336096312021Development of a xylosyltransferase-I-selective UPLC MS/MS activity assay using a specific acceptor peptide.3
316777932020Xylosyltransferase-deficient human HEK293 cells show a strongly reduced proliferation capacity and viability.3
319737612020Expression of xylosyltransferases I and II and their role in the pathogenesis of arthrofibrosis.6
316777932020Xylosyltransferase-deficient human HEK293 cells show a strongly reduced proliferation capacity and viability.3
319737612020Expression of xylosyltransferases I and II and their role in the pathogenesis of arthrofibrosis.6
304968312019Intrafamilial variability of XYLT2-related spondyloocular syndrome.7
304968312019Intrafamilial variability of XYLT2-related spondyloocular syndrome.7
291362772018Homozygous XYLT2 variants as a cause of spondyloocular syndrome.16
291362772018Homozygous XYLT2 variants as a cause of spondyloocular syndrome.16
269878752016Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.20
278711152016Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes.12
269878752016Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.20
278711152016Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes.12
257040862015Identification 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/js/js/js/lib/jquery-3.5.1.min.js