Property Summary

NCBI Gene PubMed Count 24
Grant Count 28
R01 Count 10
Funding $3,935,224.25
PubMed Score 376.20
PubTator Score 51.28

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis -3.000 0.000
osteosarcoma -2.834 0.000

Gene RIF (18)

PMID Text
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
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AA Sequence

MVASARVQKLVRRYKLAIATALAILLLQGLVVWSFSGLEEDEAGEKGRQRKPRPLDPGEGSKDTDSSAGR      1 - 70
RGSTGRRHGRWRGRAESPGVPVAKVVRAVTSRQRASRRVPPAPPPEAPGRQNLSGAAAGEALVGAAGFPP     71 - 140
HGDTGSVEGAPQPTDNGFTPKCEIVGKDALSALARASTKQCQQEIANVVCLHQAGSLMPKAVPRHCQLTG    141 - 210
KMSPGIQWDESQAQQPMDGPPVRIAYMLVVHGRAIRQLKRLLKAVYHEQHFFYIHVDKRSDYLHREVVEL    211 - 280
AQGYDNVRVTPWRMVTIWGGASLLRMYLRSMRDLLEVPGWAWDFFINLSATDYPTRTNEELVAFLSKNRD    281 - 350
KNFLKSHGRDNSRFIKKQGLDRLFHECDSHMWRLGERQIPAGIVVDGGSDWFVLTRSFVEYVVYTDDPLV    351 - 420
AQLRQFYTYTLLPAESFFHTVLENSLACETLVDNNLRVTNWNRKLGCKCQYKHIVDWCGCSPNDFKPQDF    421 - 490
LRLQQVSRPTFFARKFESTVNQEVLEILDFHLYGSYPPGTPALKAYWENTYDAADGPSGLSDVMLTAYTA    491 - 560
FARLSLHHAATAAPPMGTPLCRFEPRGLPSSVHLYFYDDHFQGYLVTQAVQPSAQGPAETLEMWLMPQGS    561 - 630
LKLLGRSDQASRLQSLEVGTDWDPKERLFRNFGGLLGPLDEPVAVQRWARGPNLTATVVWIDPTYVVATS    631 - 700
YDITVDTETEVTQYKPPLSRPLRPGPWTVRLLQFWEPLGETRFLVLPLTFNRKLPLRKDDASWLHAGPPH    701 - 770
NEYMEQSFQGLSSILNLPQPELAEEAAQRHTQLTGPALEAWTDRELSSFWSVAGLCAIGPSPCPSLEPCR    771 - 840
LTSWSSLSPDPKSELGPVKADGRLR                                                 841 - 865
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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.
More...