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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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B3GNT2
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
Chromosome 2 · 2p15
NCBI Gene: 10678Ensembl: ENSG00000170340.12HGNC: HGNC:15629UniProt: Q9NY97
45PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingN-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activitypoly-N-acetyllactosamine biosynthetic processGolgi membranehypothyroidismautoimmune diseasethyroid diseasepsoriasis
✦AI Summary

B3GNT2 is a Golgi-resident glycosyltransferase that catalyzes the synthesis of poly-N-acetyllactosamine chains through beta-1,3-N-acetylglucosamine transfer 1. As the major poly-N-acetyllactosamine synthase, B3GNT2 preferentially modifies galactose-based acceptors and represents the predominant enzyme for polylactosamine chain initiation and elongation 21. Mechanistically, B3GNT2 modifies N-glycans on signaling receptors including LRP6, promoting their trafficking and enhancing Wnt/β-catenin signaling 3. B3GNT2 also targets >10 immune ligands and receptors, disrupting tumor-T cell interactions and reducing T cell activation, thereby conferring cancer resistance to immunotherapy 4. Additionally, B3GNT2 regulates the release of coagulation factors FVIII and von Willebrand factor from endothelial cells 5. Genetically, B3GNT2 variants (rs10865331, rs6545925, rs467250) are associated with ankylosing spondylitis (AS) susceptibility and severity in both Chinese and Taiwanese populations 67. Functional genomics indicate B3GNT2 operates in natural killer cells, a key cell type in AS pathogenesis 8. Lower B3GNT2 expression correlates with increased inflammatory markers (ESR, CRP) and disease activity in AS patients 7. These findings position B3GNT2 as an important immunoregulatory glycosyltransferase with clinical relevance to autoimmunity and cancer immunotherapy resistance.

Sources cited
1
B3GNT2 is a Golgi-resident glycosyltransferase that catalyzes the synthesis of poly-N-acetyllactosamine chains through beta-1,3-N-acetylglucosamine transfer .
PMID: 33158990
2
Mechanistically, B3GNT2 modifies N-glycans on signaling receptors including LRP6, promoting their trafficking and enhancing Wnt/β-catenin signaling .
PMID: 36980204
3
B3GNT2 also targets >10 immune ligands and receptors, disrupting tumor-T cell interactions and reducing T cell activation, thereby conferring cancer resistance to immunotherapy .
PMID: 35338135
4
Additionally, B3GNT2 regulates the release of coagulation factors FVIII and von Willebrand factor from endothelial cells .
PMID: 38320121
5
Functional genomics indicate B3GNT2 operates in natural killer cells, a key cell type in AS pathogenesis .
PMID: 39468794
6
Genetically, B3GNT2 variants (rs10865331, rs6545925, rs467250) are associated with ankylosing spondylitis (AS) susceptibility and severity in both Chinese and Taiwanese populations , .
PMID: 34645591
Disease Associationsⓘ20
hypothyroidismOpen Targets
0.42Moderate
autoimmune diseaseOpen Targets
0.38Weak
thyroid diseaseOpen Targets
0.36Weak
psoriasisOpen Targets
0.35Weak
rheumatoid arthritisOpen Targets
0.33Weak
ankylosing spondylitisOpen Targets
0.33Weak
Hashimoto's thyroiditisOpen Targets
0.32Weak
Alzheimer diseaseOpen Targets
0.29Weak
Crohn's diseaseOpen Targets
0.26Weak
type 2 diabetes mellitusOpen Targets
0.25Weak
seborrheic dermatitisOpen Targets
0.24Weak
erythematosquamous dermatosisOpen Targets
0.24Weak
inflammatory spondylopathyOpen Targets
0.23Weak
psoriasis vulgarisOpen Targets
0.23Weak
anterior uveitisOpen Targets
0.19Weak
psoriatic arthritisOpen Targets
0.19Weak
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13Open Targets
0.18Weak
skin carcinoma in situOpen Targets
0.16Weak
placenta praeviaOpen Targets
0.12Weak
ulcerative colitisOpen Targets
0.11Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FUT1Protein interaction93%FUT2Protein interaction93%FUT3Protein interaction93%FUT4Protein interaction93%FUT5Protein interaction93%FUT6Protein interaction93%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
26%
Lung
16%
Liver
13%
Brain
9%
Ovary
5%
Gene Interaction Network
Click a node to explore
B3GNT2FUT1FUT2FUT3FUT4FUT5FUT6
PROTEIN STRUCTURE
Preparing viewer…
PDB6WMM · 1.55 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.67LoF Tolerant
pLIⓘ
0.27Tolerant
Observed/Expected LoF0.42 [0.27–0.67]
RankingsWhere B3GNT2 stands among ~20K protein-coding genes
  • #9,416of 20,598
    Most Researched45
  • #4,978of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedB3GNT2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CRISPR activation screen identifies BCL-2 proteins and B3GNT2 as drivers of cancer resistance to T cell-mediated cytotoxicity.
PMID: 35338135
Nat Commun · 2022
1.00
2
A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels.
PMID: 38320121
Blood · 2024
0.90
3
Structures and mechanism of human glycosyltransferase β1,3-N-acetylglucosaminyltransferase 2 (B3GNT2), an important player in immune homeostasis.
PMID: 33158990
J Biol Chem · 2021
0.80
4
Identifying prioritization of therapeutic targets for ankylosing spondylitis: a multi-omics Mendelian randomization study.
PMID: 39707330
J Transl Med · 2024
0.70
5
B3GNT2, GPR35, PSMG1 Gene Polymorphisms Are Related With Susceptibility and Severity of Ankylosing Spondylitis in Chinese Han Population.
PMID: 40736072
Mol Genet Genomic Med · 2025
0.60