Property Summary

NCBI Gene PubMed Count 24
PubMed Score 376.20
PubTator Score 51.28

Knowledge Summary


No data available


  Differential Expression (2)

Disease log2 FC p
psoriasis -3.000 6.0e-06
osteosarcoma -2.834 5.8e-09

Gene RIF (18)

26027496 Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
25748573 Demonstrate that XT-II is the predominant isoenzyme responsible for XT activity in serum. The proof was performed using UDP-xylose as the xylose donor, as well as the compound UDP-4-azido-4-deoxyxylose, which is a selective xylose donor for XT-I.
25704086 Seven XYLT2 promoter single nucleotide variants (SNVs) were identified and genotyped.
22886070 The study identified and characterized for the first time the XYLT2 gene promoter region and transcription factors involved in its regulation.
19389916 serum XylT levels may be an informative biomarker in patients who suffer from diseases affecting platelet and/or liver homeostasis.
19289103 A protein sequence alignment and polarity plot of XylT-I and XylT-II revealed several Cardin-Weintraub motifs and charged surface clusters, which might be involved in electrostatic-mediated heparin-binding.
19197251 The deviation from Hardy-Weinberg equilibrium of two XYLT2 variants might be due to gene-phenotype associations which remain to be explored, as well as the possibility of gene-gene interactions.
19197251 Observational study of gene-disease association. (HuGE Navigator)
19014925 Observational study of gene-disease association. (HuGE Navigator)
18789912 Our data show that a XYLT2 haplotype is associated with nephropathy in type 1 diabetic patients
18789912 Observational study of gene-disease association. (HuGE Navigator)
18763033 These results point to skeletal growth and tissue remodeling as a cause of the high XT activity in children
18023272 Our data show for the first time that XT-I and XT-II are xylosyltransferases with similar but not identical properties, pointing to their potential role in modulating the cellular proteoglycan pool.
17194707 demonstrate that a soluble form of human XT-II expressed in the xylosyltransferase-deficient pgsA-745 (S745) Chinese hamster ovary cell line is indeed capable of catalyzing the transfer of xylose to a variety of peptide substrates
17003309 Observational study of gene-disease association. (HuGE Navigator)
16569644 recombinant expression and cloning of active full-length xylosyltransferase I (XT-I) and characterization of subcellular localization of XT-I and XT-II
16164625 Observational study of gene-disease association. (HuGE Navigator)
16164625 xylotransferase genes might be potential candidate genes predisposing to diabetic nephropathy in type 1 diabetic patients

AA Sequence

LTSWSSLSPDPKSELGPVKADGRLR                                                 841 - 865

Text Mined References (25)

PMID Year Title
26027496 2015 Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
25748573 2015 Xylosyltransferase II is the predominant isoenzyme which is responsible for the steady-state level of xylosyltransferase activity in human serum.
25704086 2015 Identification and characterization of human xylosyltransferase II promoter single nucleotide variants.
22886070 2013 First identification and functional analysis of the human xylosyltransferase II promoter.
19389916 2009 Xylosyltransferase II is a significant contributor of circulating xylosyltransferase levels and platelets constitute an important source of xylosyltransferase in serum.
19289103 2009 Analysis of xylosyltransferase II binding to the anticoagulant heparin.
19197251 2009 Xylosyltransferase gene variants and their role in essential hypertension.
19014925 2009 The xylosyltransferase Iota gene polymorphism c.343G>T (p.A115S) is associated with decreased serum glycosaminoglycan levels.
18789912 2008 Identification of a xylosyltransferase II gene haplotype marker for diabetic nephropathy in type 1 diabetes.
18763033 2009 High xylosyltransferase activity in children and during mineralization of osteoblast-like SAOS-2 cells.
18023272 2008 Heterologous expression and biochemical characterization of soluble human xylosyltransferase II.
17194707 2007 XT-II, the second isoform of human peptide-O-xylosyltransferase, displays enzymatic activity.
17003309 2006 The xylosyltransferase I gene polymorphism c.343G>T (p.A125S) is a risk factor for diabetic nephropathy in type 1 diabetes.
16571645 2006 Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course.
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.
16164625 2005 Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11814476 2002 Xylosyltransferase activity in seminal plasma of infertile men.
11099377 2000 Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II.
11087729 2001 First isolation of human UDP-D-xylose: proteoglycan core protein beta-D-xylosyltransferase secreted from cultured JAR choriocarcinoma cells.
10383739 1999 Serum xylosyltransferase: a new biochemical marker of the sclerotic process in systemic sclerosis.
9588955 1998 Xylosylation of alternatively spliced isoforms of Alzheimer APP by xylosyltransferase.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.