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8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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A3GALT2
alpha 1,3-galactosyltransferase 2
Chromosome 1 · 1p35.1
NCBI Gene: 127550Ensembl: ENSG00000184389.9HGNC: HGNC:30005UniProt: U3KPV4
4PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
alpha-1,3-galactosyltransferase activityglycosyltransferase activityN-acetyllactosaminide 3-alpha-galactosyltransferase activityglycosphingolipid biosynthetic processneurodegenerative diseaserisk-taking behaviourmigraine disorderAbnormality of the skeletal system
✦AI Summary

A3GALT2 (alpha 1,3-galactosyltransferase 2) encodes a glycosyltransferase that synthesizes the galactose-alpha(1,3)-galactose epitope on isoglobotrihexosylceramide (iGb3) by catalyzing galactose transfer from UDP-galactose to Gal-beta-1,4-Glc-ceramide 1. The enzyme can also catalyze subsequent additions of galactose to iGb3 itself to form polygalactose structures. A3GALT2 belongs to the GT6 glycosyltransferase gene family alongside ABO and GGTA1, with substrate specificity determined by amino acid residues at the binding pocket 1. In xenotransplantation research, A3GALT2 has emerged as a relevant target for genetic modification alongside GGTA1 and CMAH to reduce xenogeneic rejection 2. However, studies demonstrate that silencing A3GALT2 in GGTA1-knockout pigs does not significantly reduce alpha-gal epitope levels or antibody-mediated rejection in pig-to-human/primate xenotransplantation models 3. Triple knockout of GGTA1/CMAH/A3GALT2 pigs showed variable effects on human antibody binding depending on cell type, suggesting organ-specific considerations for xenograft engineering 4. In humans, A3GALT2 loss-of-function mutations are associated with markedly reduced plasma insulin C-peptide concentrations 5. A3GALT2 deficiency does not impact invariant natural killer T cell development or function 6, suggesting iGb3 is not critical for iNKT selection.

Sources cited
1
A3GALT2 encodes isoglobotriaosylceramide synthase with amino acid residues at codons 266-268 determining sugar specificity and transferase activity
PMID: 30696937
2
A3GALT2 is a glycosyltransferase knockout target in CRISPR-Cas9-engineered pigs for xenotransplantation
PMID: 30480643
3
A3GALT2 gene silencing does not reduce alpha-gal epitope levels or alter human/baboon serum cytotoxicity in GGTA1-knockout pigs
PMID: 27106872
4
Triple knockout of GGTA1/CMAH/A3GALT2 shows cell-type-dependent effects on human antibody binding in pig tissues
PMID: 34232440
5
A3GALT2 homozygous loss-of-function mutations associate with markedly reduced plasma insulin C-peptide concentrations in humans
PMID: 28406212
6
A3GALT2 deficiency does not affect invariant natural killer T cell development, numbers, or activation
PMID: 17372206
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.29Weak
risk-taking behaviourOpen Targets
0.25Weak
migraine disorderOpen Targets
0.20Weak
Abnormality of the skeletal systemOpen Targets
0.13Weak
breast cancerOpen Targets
0.12Weak
diabetes mellitusOpen Targets
0.10Weak
Cannabis useOpen Targets
0.09Suggestive
schizophreniaOpen Targets
0.09Suggestive
smoking behaviorOpen Targets
0.09Suggestive
type 2 diabetes mellitusOpen Targets
0.09Suggestive
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
substance abuseOpen Targets
0.07Suggestive
smoking initiationOpen Targets
0.07Suggestive
albuminuriaOpen Targets
0.04Suggestive
cervical carcinomaOpen Targets
0.02Suggestive
neuropathic painOpen Targets
0.01Suggestive
SepsisOpen Targets
0.01Suggestive
melanomaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
strokeOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
B3GALNT1Protein interaction94%GLB1Protein interaction86%B4GALT6Protein interaction64%IDNKShared pathway50%GLT6D1Shared pathway50%LANCL3Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
61%
Brain
35%
Ovary
26%
Liver
22%
Heart
0%
Gene Interaction Network
Click a node to explore
A3GALT2B3GALNT1GLB1B4GALT6IDNKGLT6D1LANCL3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt U3KPV4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.53LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.02 [0.70–1.53]
RankingsWhere A3GALT2 stands among ~20K protein-coding genes
  • #18,517of 20,598
    Most Researched4
  • #15,344of 17,882
    Most Constrained (LOEUF)1.53
Genes detectedA3GALT2
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Xenogeneic transplantation and tolerance in the era of CRISPR-Cas9.
PMID: 30480643
Curr Opin Organ Transplant · 2019
1.00
2
Silencing the porcine iGb3s gene does not affect Galα3Gal levels or measures of anticipated pig-to-human and pig-to-primate acute rejection.
PMID: 27106872
Xenotransplantation · 2016
0.88
3
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
PMID: 28406212
Nature · 2017
0.75
4
Normal development and function of invariant natural killer T cells in mice with isoglobotrihexosylceramide (iGb3) deficiency.
PMID: 17372206
Proc Natl Acad Sci U S A · 2007
0.63
5
Sequence analysis of ABO and its homologues is valid for species identification.
PMID: 28850748
Transfus Med · 2017
0.50