Property Summary

NCBI Gene PubMed Count 15
Grant Count 123
R01 Count 83
Funding $19,260,565.73
PubMed Score 97.44
PubTator Score 23.59

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
sonic hedgehog group medulloblastoma -3.100 0.000
glioblastoma -2.200 0.015
pediatric high grade glioma -2.300 0.001
atypical teratoid/rhabdoid tumor -1.500 0.014
subependymal giant cell astrocytoma -1.619 0.030
gastric carcinoma -1.300 0.030
ovarian cancer -2.500 0.000

Synonym

Accession Q9NPZ5 Q5JS09 Q8TF38 Q96NK4
Symbols GLCATS

Gene

PANTHER Protein Class (2)

PDB

2D0J  

Gene RIF (7)

PMID Text
26545406 B3GAT2 and ZNF793 are hypermethylated in BE, and the methylation status of these genes can be used to detect BE in tissue samples.
20950796 results suggest that effects on biosynthesis of the neuronal epitope HNK-1, through common B3GAT2 variation, could increase the risk of SCZ, possibly by decreasing cortical area.
20950796 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
16897771 Residues interacting with UDP molecule, which is a part of the donor substrate, are highly conserved between GlcAT-P and GlcAT-S
12522689 human GlcAT-S gene-located on human chromosome 6 encodes a protein involved in biosynthesis of HNK-1 carbohydrate epitope on glycoproteins.

AA Sequence

MKSALFTRFFILLPWILIVIIMLDVDTRRPVPPLTPRPYFSPYAVGRGGARLPLRRGGPAHGTQKRNQSR      1 - 70
PQPQPEPQLPTIYAITPTYSRPVQKAELTRLANTFRQVAQLHWILVEDAAARSELVSRFLARAGLPSTHL     71 - 140
HVPTPRRYKRPGLPRATEQRNAGLAWLRQRHQHQRAQPGVLFFADDDNTYSLELFQEMRTTRKVSVWPVG    141 - 210
LVGGRRYERPLVENGKVVGWYTGWRADRPFAIDMAGFAVSLQVILSNPKAVFKRRGSQPGMQESDFLKQI    211 - 280
TTVEELEPKANNCTKVLVWHTRTEKVNLANEPKYHLDTVKIEV                               281 - 323
//

Text Mined References (15)

PMID Year Title
26545406 2015 Methylated B3GAT2 and ZNF793 Are Potential Detection Biomarkers for Barrett's Esophagus.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
21326311 2011 Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.
20950796 2011 Candidate gene analysis of the human natural killer-1 carbohydrate pathway and perineuronal nets in schizophrenia: B3GAT2 is associated with disease risk and cortical surface area.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
16897771 2006 Crystal structure of GlcAT-S, a human glucuronyltransferase, involved in the biosynthesis of the HNK-1 carbohydrate epitope.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15470230 2005 Different acceptor specificities of two glucuronyltransferases involved in the biosynthesis of HNK-1 carbohydrate.
15039073 2004 Purification and characterization of two recombinant human glucuronyltransferases involved in the biosynthesis of HNK-1 carbohydrate in Escherichia coli.
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