XYLT2 (xylosyltransferase 2)

2003-05-01 Affiliation

Identity

HGNC

XYLT2

LOCATION

17q21.33

LOCUSID

64132

ALIAS

PXYLT2,SOS,XT-II,XT2,xylT-II

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000015532	ENST00000017003	Q9H1B5
ENSG00000015532	ENST00000376550	A0A0C4DFW8
ENSG00000015532	ENST00000507602	B4DT06
ENSG00000015532	ENST00000509778	D6RCT0
ENSG00000015532	ENST00000511654	H0YB00
ENSG00000015532	ENST00000574840	I3L3K2

Expression (GTEx)

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

Pathway	Source	External ID
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate	KEGG	ko00532
Glycosaminoglycan biosynthesis - heparan sulfate / heparin	KEGG	ko00534
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate	KEGG	hsa00532
Glycosaminoglycan biosynthesis - heparan sulfate / heparin	KEGG	hsa00534
Metabolic pathways	KEGG	hsa01100
Glycosaminoglycan biosynthesis, linkage tetrasaccharide	KEGG	hsa_M00057
Glycosaminoglycan biosynthesis, linkage tetrasaccharide	KEGG	M00057
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387
Glycosaminoglycan metabolism	REACTOME	R-HSA-1630316
Heparan sulfate/heparin (HS-GAG) metabolism	REACTOME	R-HSA-1638091
A tetrasaccharide linker sequence is required for GAG synthesis	REACTOME	R-HSA-1971475
Chondroitin sulfate/dermatan sulfate metabolism	REACTOME	R-HSA-1793185

PharmGKB

Entity ID	Name	Type	Evidence	Association	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
16569644	2006	Cloning and recombinant expression of active full-length xylosyltransferase I (XT-I) and characterization of subcellular localization of XT-I and XT-II.	16
26027496	2015	Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.	8
27871115	2016	Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes.	7
17194707	2007	XT-II, the second isoform of human peptide-O-xylosyltransferase, displays enzymatic activity.	6
19389916	2009	Xylosyltransferase II is a significant contributor of circulating xylosyltransferase levels and platelets constitute an important source of xylosyltransferase in serum.	6
26987875	2016	Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.	6
16164625	2005	Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy.	4
16164625	2005	Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy.	4
17003309	2006	The xylosyltransferase I gene polymorphism c.343G>T (p.A125S) is a risk factor for diabetic nephropathy in type 1 diabetes.	4
18023272	2008	Heterologous expression and biochemical characterization of soluble human xylosyltransferase II.	4

Citation

Dessen P

XYLT2 (xylosyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42852/xylt2-(xylosyltransferase-2)