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Last update 08 May 2025

B3GNT2

Last update 08 May 2025

Basic Info

Synonyms

b3Gal-T7, B3GALT7, B3GN-T1

+ [22]

Introduction

Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Catalyzes the initiation and elongation of poly-N-acetyllactosamine chains. Shows a marked preference for Gal(beta1-4)Glc(NAc)-based acceptors (PubMed:9892646). Probably constitutes the main polylactosamine synthase.

Drugs associated with B3GNT2

B3GNT2 inhibitors(Amgen)

Target

B3GNT2

Mechanism

B3GNT2 inhibitors

Active Org.

Amgen, Inc.

Originator Org.

Amgen, Inc.

Active Indication-

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

B3GNT2 inhibitor(Amgen)

Target

B3GNT2

Mechanism

B3GNT2 inhibitors

Active Org.

Amgen, Inc.

Originator Org.

Amgen, Inc.

Active Indication

Immune System Diseases

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with B3GNT2

100 Translational Medicine associated with B3GNT2

0 Patents (Medical) associated with B3GNT2

Literatures (Medical) associated with B3GNT2

01 Jan 2025·Human Genetics and Genomics Advances

Functional genomics implicates natural killer cells in the pathogenesis of ankylosing spondylitis

Article

Author: Lefton, Micah ; Fernandez-Salinas, Daniela ; Chiñas, Marcos ; Gutierrez-Arcelus, Maria ; Ermann, Joerg ; Nigrovic, Peter A ; Aguiar, Vitor R C ; Nieto-Caballero, Victor E

Multiple lines of evidence indicate that ankylosing spondylitis (AS) is a lymphocyte-driven disease. However, which lymphocyte populations are critical in AS pathogenesis is not known. In this study, we aimed to identify the key cell types mediating the genetic risk in AS using an unbiased functional genomics approach. We integrated genome-wide association study (GWAS) data with epigenomic and transcriptomic datasets of human immune cells. To quantify enrichment of cell type-specific open chromatin or gene expression in AS risk loci, we used three published methods-LDSC-SEG, SNPsea, and scDRS-that have successfully identified relevant cell types in other diseases. Natural killer (NK) cell-specific open chromatin regions are significantly enriched in heritability for AS, compared to other immune cell types such as T cells, B cells, and monocytes. This finding was consistent between two AS GWAS. Using RNA sequencing data, we validated that genes in AS risk loci are enriched in NK cell-specific gene expression. Using the human Space-Time Gut Cell Atlas, we also found significant upregulation of AS-associated genes predominantly in NK cells. We performed co-localization analyses between GWAS risk loci and genetic variants associated with gene expression (eQTL) to find putative target genes. This revealed four AS risk loci affecting regulation of candidate target genes in NK cells: two known loci, ERAP1 and TNFRSF1A, and two understudied loci, ENTR1 (SDCCAG3) and B3GNT2. Our findings suggest that NK cells may play a crucial role in AS development and highlight four putative target genes for functional follow-up in NK cells.

01 Jul 2024·Poultry science

Genetic background of walking ability and its relationship with leg defects, mortality, and performance traits in turkeys (Meleagris gallopavo)

Article

Author: Hernandez, Rick O ; Erasmus, Marisa A ; Bai, Xuechun ; Regmi, Prafulla ; Brito, Luiz F ; Mulim, Henrique A ; Vanderhout, Ryley ; Willems, Owen

This study aimed to explore the genetic basis of walking ability and potentially related performance traits in turkey purebred populations. Phenotypic, pedigree, and genomic datasets from 2 turkey lines hatched between 2010 and 2023 were included in the study. Walking ability data, defined based on a scoring system ranging from 1 (worst) to 6 (best), were collected on 192,019 animals of a female line and 235,461 animals of a male line. Genomic information was obtained for 46,427 turkeys (22,302 from a female line and 24,125 from a male line) using a 65K single nucleotide polymorphism (SNP) panel. Variance components and heritability for walking ability were estimated. Furthermore, genetic and phenotypic correlations among walking ability, mortality and disorders, and performance traits were calculated. A genome-wide association study (GWAS) was also conducted to identify SNPs associated with walking ability. Walking ability is moderately heritable (0.23 ± 0.01) in both turkey lines. The genetic correlations between walking ability and the other evaluated traits ranged from -0.02 to -0.78, with leg defects exhibiting the strongest negative correlation with walking ability. In the female line, 31 SNPs were associated with walking ability and overlapped with 116 genes. These positional genes are linked to 6 gene ontology (GO) terms. Notably, genes such as CSRP2, DDX1, RHBDL1, SEZ6L, and CTSK are involved in growth, development, locomotion, and bone disorders. GO terms, including fibronectin binding (GO:0001968), peptide cross-linking (GO:0018149), and catabolic process (GO:0009057), are directly linked with mobility. In the male line, 66 markers associated with walking ability were identified and overlapped with 281 genes. These genes are linked to 12 GO terms. Genes such as RB1CC1, TNNI1, MSTN, FN1, SIK3, PADI2, ERBB4, B3GNT2, and BACE1 are associated with cell growth, myostatin development, and disorders. GO terms in the male line are predominantly related to lipid metabolism. In conclusion, walking ability is moderately heritable in both populations. Furthermore, walking ability can be enhanced through targeted genetic selection, emphasizing its relevance to both animal welfare and productivity.

02 May 2024·Blood

A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels

Article

Author: Taylor, Kent D. ; Wheeler, Marsha M. ; Heath, Adam S. ; Joshi, Peter K. ; Mook-Kanamori, Dennis O. ; Harris, Sarah E. ; Yao, Jie ; Reventun, Paula ; Li-Gao, Ruifang ; Klaric, Lucija ; Pankratz, Nathan ; Osburn, William O. ; Doyle, Margaret F. ; Desch, Karl C. ; Le, Ngoc-Quynh ; Linneberg, Allan ; Guo, Xiuqing ; März, Winfried ; Martinez-Perez, Angel ; Deleuze, Jean-François ; Hansen, Torben ; Psaty, Bruce M. ; Morange, Pierre-Emmanuel ; Blangero, John ; Davies, Gail ; Rotter, Jerome I. ; van Hylckama Vlieg, Astrid ; Stott, David J. ; Becker, Lewis C. ; Hayward, Caroline ; Lewis, Joshua P. ; Faraday, Nauder ; Kooperberg, Charles ; Brown, Michael R. ; Chen, Ming-Huei ; Bebo, Allison ; Beswick, Andrew ; Howard, Tom E. ; Trégouët, David-Alexandre ; Wilson, James F. ; Campbell, Harry ; Fornage, Myriam ; Noordam, Raymond ; Moissl, Angela P. ; Jain, Deepti ; Delgado, Graciela E. ; Jukema, J. Wouter ; Boerwinkle, Eric ; Ghanbari, Mohsen ; Morrison, Alanna C. ; Raffield, Laura M. ; Ekunwe, Lynette ; Kleber, Marcus E. ; Lange, Leslie A. ; Mathias, Rasika A. ; Sabater-Lleal, Maria ; Johnson, Andrew D. ; Ozel, Ayse Bilge ; Carrasquilla, German D. ; Thibord, Florian ; Ryan, Kathleen A. ; Reiner, Alex P. ; Rosendaal, Frits R. ; Polasek, Ozren ; Rich, Stephen S. ; Ben-Shlomo, Yoav ; Kilpeläinen, Tuomas O. ; Rudan, Igor ; Temprano-Sagrera, Gerard ; Ikram, M. Arfan ; Yanek, Lisa R. ; de Vries, Paul S. ; van Rooij, Frank ; Brody, Jennifer A. ; Arvanitis, Marios ; Smith, Nicholas L. ; Bartz, Traci M. ; Cox, Simon R. ; Souto, Juan Carlos ; de Maat, Moniek P. M. ; Lowenstein, Charles J. ; van der Harst, Pim ; Brody, Lawrence C. ; Rodriguez, Benjamin A. T. ; Kolcic, Ivana ; O'Connell, Jeffrey R. ; Suchon, Pierre ; Soria, Jose Manuel ; Marioni, Riccardo E. ; Auer, Paul L. ; Curran, Joanne E. ; Huffman, Jennifer E. ; Mitchell, Braxton D. ; Almasy, Laura ; Trompet, Stella

AbstractCoagulation factor VIII (FVIII) and its carrier protein von Willebrand factor (VWF) are critical to coagulation and platelet aggregation. We leveraged whole-genome sequence data from the Trans-Omics for Precision Medicine (TOPMed) program along with TOPMed-based imputation of genotypes in additional samples to identify genetic associations with circulating FVIII and VWF levels in a single-variant meta-analysis, including up to 45 289 participants. Gene-based aggregate tests were implemented in TOPMed. We identified 3 candidate causal genes and tested their functional effect on FVIII release from human liver endothelial cells (HLECs) and VWF release from human umbilical vein endothelial cells. Mendelian randomization was also performed to provide evidence for causal associations of FVIII and VWF with thrombotic outcomes. We identified associations (P < 5 × 10−9) at 7 new loci for FVIII (ST3GAL4, CLEC4M, B3GNT2, ASGR1, F12, KNG1, and TREM1/NCR2) and 1 for VWF (B3GNT2). VWF, ABO, and STAB2 were associated with FVIII and VWF in gene-based analyses. Multiphenotype analysis of FVIII and VWF identified another 3 new loci, including PDIA3. Silencing of B3GNT2 and the previously reported CD36 gene decreased release of FVIII by HLECs, whereas silencing of B3GNT2, CD36, and PDIA3 decreased release of VWF by HVECs. Mendelian randomization supports causal association of higher FVIII and VWF with increased risk of thrombotic outcomes. Seven new loci were identified for FVIII and 1 for VWF, with evidence supporting causal associations of FVIII and VWF with thrombotic outcomes. B3GNT2, CD36, and PDIA3 modulate the release of FVIII and/or VWF in vitro.

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B3GNT2

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