Ask about this productRelated genes to: B4GALNT3 antibody
- Gene:
- B4GALNT3 NIH gene
- Name:
- beta-1,4-N-acetyl-galactosaminyltransferase 3
- Previous symbol:
- -
- Synonyms:
- B4GalNac-T3, FLJ16224, FLJ40362
- Chromosome:
- 12p13.33
- Locus Type:
- gene with protein product
- Date approved:
- 2006-01-08
- Date modifiied:
- 2016-02-22
Related products to: B4GALNT3 antibody
Related articles to: B4GALNT3 antibody
- Alzheimer's disease (AD) is a multifactorial neurodegenerative condition in which accumulating genetic and molecular evidence implicates dysregulation of peripheral immune processes in disease pathogenesis. Nevertheless, the contribution of distinct peripheral immune cell subsets and associated gene regulatory landscapes to AD risk remains incompletely defined. To address this gap, we integrated single-cell expression quantitative trait loci (sc‑eQTL) data from the OneK1K cohort with AD GWAS summary statistics. We systematically interrogated immune cell-specific genes for their contributions to AD risk by integrating genetic causal inference with Bayesian colocalization analyses, and identified 24 eGenes that passed both the MR significance threshold (P < 0.05) and the criterion for strong shared genetic signals (PP.H4 > 0.8). Notable candidates included GATS, HLA-DOB, HLA-DQA1, PM20D1, and others, with each gene demonstrating a cell-type-specific association restricted to its corresponding immune cell type, such as monocytes, CD8T cells, or B cells. Independent peripheral blood single-cell transcriptomic data further supported disease-associated shifts in cell-type-specific expression patterns in AD. Phenome-wide association studies (PheWAS) indicated limited associations with off-target traits, indicating a favorable safety profile for therapeutic intervention, with the exceptions of B4GALNT3, PM20D1, and CNN2. Integration of immune gene targets with pharmacological databases yielded three candidate compound, including NSC321521 (targeting HLA-DQA1), phenoxybenzamine (targeting GSTP1), and rimexolone (targeting BIN1). Among these compounds, Predicted blood-brain barrier permeability was observed only for phenoxybenzamine and rimexolone, with docking studies indicating stable interactions, such as those between NSC321521 and HLA-DQA1, phenoxybenzamine and GSTP1, and rimexolone and BIN1. This integrative approach highlights key immune‑cell‑specific genes involved in AD and proposes repurposable drugs with central nervous system potential, paving the way for more targeted immunomodulatory strategies in AD. - Source: PubMed
Publication date: 2026/06/23
Gao Tian-LongGeng ShanChen JiaYang LiuNie Yun-JuanYu HaitaoChai Gao-Shang - Pharmacological inhibition of sclerostin (SOST) is clinically applied to treat osteoporosis. However, large-scale randomized controlled trials have reported conflicting findings regarding the cardiovascular effects of SOST inhibition. This study aimed to evaluate whether sustained SOST inhibition, mimicked by instrumental genetic variants, is associated with the altered risk of cardiovascular diseases (CVDs). - Source: PubMed
Publication date: 2026/05/30
Qian YuGuan Peng-LinHu JingyanHan Ming-YuFang Yi-HuWang Wei-LinKhederzadeh SaberHou Yun-PiaoQiu Mo-ChangGao Jian-HuaYuan Cheng-DaHuang FeiKarasik DavidCheung Ching-LungYang LiuWang YongZheng ChaoBo LinZheng Hou-Feng - Selective pressures, both natural and artificial, have significantly influenced the genomic architecture of domesticated sheep. Understanding their underlying molecular mechanisms is critical for developing efficient breeding programs to conserve and improve economically important traits in native breeds. In this study, we analysed high-density 50K SNP data from three Indigenous sheep breeds: Chanthangi (CHA, n = 29), Garole (GAR, n = 24), and Deccani (IDC, n = 26), each native to diverse climatic regions of India. We implemented a novel SNP-based de-correlated composite of multiple signals (DCMS) statistic, which integrates p-values from five selection metrics viz., FST, H1, H12, Tajima's D, and nucleotide diversity (π) into a unified measure. The SNP-based DCMS approach offers finer resolution and complements window-based methods by enabling more precise localisation of selection signals and candidate genes. Multiple testing correction was applied at a False Discovery Rate (FDR) threshold of <5% to detect significant genomic regions. Comprehensive gene and quantitative trait loci (QTL) annotation and enrichment analysis of these regions were also performed for each breed. The DCMS analysis identified 21, 10, and 14 novel and breed-specific putative genes in the Chanthangi, Garole, and Deccani breeds, respectively, as well as 10, 28, and 13breed-specific QTL regions. The identified genes and QTLs are associated with diverse phenotypic traits, including growth and muscle development (CNTNAP5, DOCK3), reproduction (TCERG1L, BUB1, UNC5C, C2CD5, BBX), wool trait (TPPP3, P2RY6, FGF10, POU2F1, FAM168A), disease resistance (MTSS1, B4GALNT3), environment adaptation (TRMT12, MAPKAPK3), domestication (LRRC36). The QTLs identified are associated with body conformation (body measurements and bone area), production (milk fat yield), reproduction (total lambs born), disease resistance (hemonchus resistance, foot rot, and pneumonia susceptibility), and health (platelet count and entropion). Our SNP-based DCMS method enabled high-resolution detection of breed-specific selection signatures. It facilitated the discovery of both known and novel genomic regions, candidate genes, and QTLs unique to Indian sheep breeds. This comprehensive approach provides valuable insights into the molecular mechanisms underlying economically important traits and offers a robust foundation for targeted genetic improvement and conservation of indigenous sheep breeds. - Source: PubMed
Publication date: 2026/03/25
Nath SapnaIlla Satish KumarWorku DestawMukherjee SabyasachiMukherjee AnupamaYata Vinod Kumar - Although endometriosis-associated ovarian cancer (EAOC) is considered a separate clinical entity, no specific prognostic biomarkers aid in its management. This has, therefore, been among the factors hindering the development of tailored treatments. We aim to develop a robust, histotype-aware biomarker for EAOC through an integrative computational approach to explain its association with the tumor immune microenvironment. - Source: PubMed
Publication date: 2026/02/02
Luo LiZhu ZiruiDai WeiweiCao NaYe Mingzhu - Mammalian proteins are decorated with a variety of glycans, providing proteins with enormous functional diversity. GalNAcβ1-4GlcNAc (LacdiNAc or LDN), a unique sub-terminal glycan structure regulating the half-life of circulating glycoproteins, is biosynthesized by the dedicated glycosyltransferases, B4GALNT3 and B4GALNT4. We recently reported that B4GALNT3 contains a unique non-catalytic PA14 domain that is necessary for the enzyme activity, while the precise function of PA14 is unclear. Here we show that PA14 in B4GALNT3 is a lectin domain required for the activity of B4GALNT3 toward glycoprotein substrates. Glycan microarray experiments, together with surface plasmon resonance and molecular dynamics simulations, demonstrated the specific binding between the PA14 domain of B4GALNT3 and sulfated glycan ligands, such as Gal[6S]β1-4GlcNAc[6S]. Both addition of the sulfated disaccharide ligands and point-mutation at the putative sugar binding site in the PA14 domain inhibited the in vitro activity of B4GALNT3 particularly toward glycoprotein substrates. These data suggest that sulfated glycans negatively regulate the PA14-dependent catalytic activity of B4GALNT3 toward glycoproteins. Suppression of cellular glycan sulfation by knocking out the Golgi transporters for sulfation donor PAPS, SLC35B2, and SLC35B3, likely resulted in the enhanced biosynthesis of LDN by B4GALNT3 in cells. Moreover, overexpression of CHST8, which catalyzes sulfation of LDN, seemed to reduce B4GALNT3 activity in cells, suggesting negative feedback regulation of B4GALNT3 by the sulfated product. These findings indicate that recognition of sulfated glycan ligands by its PA14 domain negatively regulates B4GALNT3 activity, highlighting a novel regulation mechanism for LDN synthesis mediated by a lectin domain. - Source: PubMed
Publication date: 2026/02/26
Tokoro YukoYamasaki TakahiroTateno HiroakiKamatari Yuji OSepehri BakhtyarSensui TomohiroKawashima HirotoDoerksen Robert JKizuka Yasuhiko