HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
B4GALNT3
beta-1,4-N-acetyl-galactosaminyltransferase 3
Chromosome 12 · 12p13.33
NCBI Gene: 283358Ensembl: ENSG00000139044.13HGNC: HGNC:24137UniProt: Q6L9W6
18PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
acetylgalactosaminyltransferase activityGolgi apparatusN-acetyl-beta-glucosaminyl-derivative 4-beta-N-acetylgalactosaminyltransferase activityGolgi cisterna membranehypothyroidismadolescent idiopathic scoliosisCOVID-19heart disease
✦AI Summary

B4GALNT3 encodes beta-1,4-N-acetylgalactosaminyltransferase 3, an enzyme that transfers N-acetylgalactosamine (GalNAc) to N-acetylglucosamine residues with β1,4-linkage, forming N,N'-diacetyllactosediamine (LacdiNAc) structures on both N-linked and O-linked glycans 1. The enzyme shows broad specificity, modifying GlcNAc residues on various O-glycan core chains including core 2, core 3, and extended core 1 structures 1. B4GALNT3 plays crucial roles in cancer biology by regulating cancer stemness and invasive properties through modification of EGFR N-glycans, affecting EGFR signaling and degradation in colon cancer 2. In neuroblastoma, B4GALNT3 expression correlates with favorable prognosis and suppresses malignant behavior by modifying β1 integrin glycosylation, leading to decreased focal adhesion kinase and downstream signaling 3. The enzyme is also critical for bone physiology, regulating circulating sclerostin levels through LDN-glycosylation, with B4galnt3-/- mice showing higher sclerostin levels and lower bone mass 4. Genome-wide association studies have identified B4GALNT3 as a significant genetic factor influencing circulating α-Klotho levels, suggesting roles in protein stability and turnover 5. These diverse functions highlight B4GALNT3's importance in cellular signaling, cancer progression, and metabolic regulation.

Sources cited
1
B4GALNT3 transfers GalNAc to GlcNAc forming LacdiNAc structures and shows activity on multiple O-glycan core chains
PMID: 32267274
2
B4GALNT3 regulates cancer stemness and invasive properties by modifying EGFR N-glycans in colon cancer
PMID: 25003232
3
B4GALNT3 expression correlates with favorable prognosis in neuroblastoma and suppresses malignant behavior through β1 integrin modification
PMID: 21741930
4
B4GALNT3 regulates bone mass through LDN-glycosylation of sclerostin
PMID: 37023531
5
B4GALNT3 is a genetic factor influencing circulating α-Klotho levels
PMID: 34542150
Disease Associationsⓘ20
hypothyroidismOpen Targets
0.46Moderate
adolescent idiopathic scoliosisOpen Targets
0.31Weak
COVID-19Open Targets
0.31Weak
heart diseaseOpen Targets
0.30Weak
obesityOpen Targets
0.28Weak
ankylosing spondylitisOpen Targets
0.23Weak
tooth diseaseOpen Targets
0.22Weak
obstructive sleep apneaOpen Targets
0.12Weak
combined immunodeficiency with skin granulomasOpen Targets
0.04Suggestive
neutropenia, severe congenital, 2, autosomal dominantOpen Targets
0.03Suggestive
colorectal cancerOpen Targets
0.03Suggestive
X-Linked Combined Immunodeficiency DiseasesOpen Targets
0.03Suggestive
immunodeficiency 15aOpen Targets
0.03Suggestive
common variable immunodeficiencyOpen Targets
0.03Suggestive
immunodeficiency 18Open Targets
0.03Suggestive
immunodeficiency 112Open Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
Crohn's diseaseOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
ovarian cancerOpen Targets
0.02Suggestive
Pathogenic Variants1
NM_173593.4(B4GALNT3):c.1271-1G>CLikely pathogenic
Susceptibility to severe COVID-19
★☆☆☆2024
View on ClinVar ↗
Related Genes
FUT8Protein interaction93%B4GALT2Protein interaction92%B4GALNT4Protein interaction92%B4GALT3Protein interaction92%B4GALT1Protein interaction92%CHST8Protein interaction92%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
23%
Lung
13%
Brain
5%
Ovary
2%
Liver
1%
Gene Interaction Network
Click a node to explore
B4GALNT3FUT8B4GALT2B4GALNT4B4GALT3B4GALT1CHST8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6L9W6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.59–0.83]
RankingsWhere B4GALNT3 stands among ~20K protein-coding genes
  • #14,644of 20,598
    Most Researched18
  • #5,395of 5,498
    Most Pathogenic Variants1
  • #7,162of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedB4GALNT3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
New somatic mutations and WNK1-B4GALNT3 gene fusion in papillary thyroid carcinoma.
PMID: 25803323
Oncotarget · 2015
1.00
2
β1, 4-N-acetylgalactosaminyltransferase III modulates cancer stemness through EGFR signaling pathway in colon cancer cells.
PMID: 25003232
Oncotarget · 2014
0.90
3
GWAS meta-analysis followed by Mendelian randomization revealed potential control mechanisms for circulating α-Klotho levels.
PMID: 34542150
Hum Mol Genet · 2022
0.80
4
B4GALNT3 regulates glycosylation of sclerostin and bone mass.
PMID: 37023531
EBioMedicine · 2023
0.70
5
B4GALNT3 expression predicts a favorable prognosis and suppresses cell migration and invasion via β₁ integrin signaling in neuroblastoma.
PMID: 21741930
Am J Pathol · 2011
0.60