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GeneE
9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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B3GALT2
beta-1,3-galactosyltransferase 2
Chromosome 1 · 1q31.2
NCBI Gene: 8707Ensembl: ENSG00000162630.7HGNC: HGNC:917UniProt: O43825
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activityprotein bindingglucosylceramide metabolic processGolgi membranehypertensionage-related macular degenerationdry age related macular degenerationgastritis
✦AI Summary

B3GALT2 is a beta-1,3-galactosyltransferase that catalyzes the transfer of galactose from UDP-galactose to substrates with terminal beta-N-acetylglucosamine residues, playing a critical role in glycoprotein and glycolipid biosynthesis. The enzyme localizes to the Golgi membrane and participates in oligosaccharide biosynthetic pathways. Mechanistically, B3GALT2 exerts neuroprotective effects primarily through glycosylation modification of membrane receptors and activation of TGF-β signaling. In ischemic stroke models, B3GALT2 maintains blood-brain barrier (BBB) integrity via TGF-β1/TGF-βR(II)/p-Smad2/3 signaling 1, and promotes cerebral angiogenesis during the repair phase through glycosylation of TGF-βR(II) and ALK1 receptors 2. Additionally, B3GALT2 suppresses NLRP3 inflammasome-mediated pyroptosis and oxidative stress via TGF-β1-dependent pathways 3. Clinically, B3GALT2 deficiency exacerbates ischemic brain injury, with heterozygous knockout mice showing increased infarct volume and neuronal apoptosis; these effects are reversible by Reelin pathway modulation 4. In gouty arthritis, B3GALT2 is downregulated and inversely correlates with inflammatory markers; TFAP2A transcriptionally activates B3GALT2 to suppress pyroptosis 5. B3GALT2 also appears as a predicted target gene in stem cell exosome-mediated cartilage maintenance 6 and may regulate calcium signaling in epileptogenesis 7.

Sources cited
1
B3GALT2 deficiency exacerbates ischemic brain damage and neuronal apoptosis; Reelin pathway modulation reverses these effects
PMID: 33482286
2
B3GALT2 protects BBB integrity through TGF-β1/TGF-βR(II)/p-Smad2/3 signaling in brain microvascular endothelial cells after cerebral ischemia
PMID: 33524473
3
B3GALT2 reduces oxidative stress and NLRP3 inflammasome activation in ischemic stroke through TGF-β1-dependent mechanisms
PMID: 36094000
4
B3GALT2 promotes cerebral angiogenesis during ischemic repair through glycosylation modification of TGF-βR(II) and ALK1 receptors
PMID: 41565095
5
B3GALT2 is downregulated in gouty arthritis and transcriptionally regulated by TFAP2A to suppress NLRP3 inflammasome-mediated pyroptosis
PMID: 41654938
6
B3GALT2 is a predicted target gene of exosomal miRNAs involved in cartilage development and differentiation
PMID: 40823751
7
B3GALT2 is a predicted target of miR-669m-3p involved in glycosylation pathways during post-status epilepticus epileptogenesis
PMID: 32800559
Disease Associationsⓘ20
hypertensionOpen Targets
0.37Weak
age-related macular degenerationOpen Targets
0.26Weak
dry age related macular degenerationOpen Targets
0.25Weak
gastritisOpen Targets
0.22Weak
CachexiaOpen Targets
0.22Weak
HypoventilationOpen Targets
0.20Weak
response to statinOpen Targets
0.17Weak
cardiovascular diseaseOpen Targets
0.16Weak
essential hypertensionOpen Targets
0.15Weak
familial isolated hyperparathyroidismOpen Targets
0.12Weak
hyperparathyroidismOpen Targets
0.12Weak
cervical carcinomaOpen Targets
0.09Suggestive
diabetes mellitusOpen Targets
0.09Suggestive
breast carcinomaOpen Targets
0.06Suggestive
ulcerative colitisOpen Targets
0.04Suggestive
attention deficit hyperactivity disorderOpen Targets
0.04Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.04Suggestive
Increased blood pressureOpen Targets
0.04Suggestive
X-linked intellectual disability - psychosis - macroorchidismOpen Targets
0.03Suggestive
X-linked intellectual disability-psychosis-macroorchidism syndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
B3GALT5Protein interaction97%B3GALT1Protein interaction95%A4GALTProtein interaction92%FUT1Protein interaction92%FUT2Protein interaction92%FUT3Protein interaction92%
Tissue Expression6 tissues
Heart
100%
Brain
24%
Ovary
9%
Bone Marrow
5%
Lung
2%
Liver
1%
Gene Interaction Network
Click a node to explore
B3GALT2B3GALT5B3GALT1A4GALTFUT1FUT2FUT3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O43825
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.71Intermediate
Observed/Expected LoF0.37 [0.24–0.59]
RankingsWhere B3GALT2 stands among ~20K protein-coding genes
  • #14,109of 20,598
    Most Researched20
  • #3,971of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedB3GALT2
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
β-1, 3-galactosyltransferase 2 deficiency exacerbates brain injury after transient focal cerebral ischemia in mice.
PMID: 33482286
Brain Res Bull · 2021
1.00
2
β-1, 3-galactosyltransferase 2 ameliorates focal ischemic cerebral injury by maintaining blood-brain barrier integrity.
PMID: 33524473
Neurochem Int · 2021
0.89
3
Comparisons of miRNA profiles of exosomes derived from human iPSCs, ADSCs, and BMSCs and effects on chondrocyte function.
PMID: 40823751
Bone Joint Res · 2025
0.78
4
Intranasal administration of β-1, 3-galactosyltransferase 2 confers neuroprotection against ischemic stroke by likely inhibiting oxidative stress and NLRP3 inflammasome activation.
PMID: 36094000
FASEB J · 2022
0.67
5
Extracellular vesicle-derived AEBP1 mRNA as a novel candidate biomarker for diabetic kidney disease.
PMID: 34332599
J Transl Med · 2021
0.56