HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
B4GALT4
beta-1,4-galactosyltransferase 4
Chromosome 3 · 3q13.32
NCBI Gene: 8702Ensembl: ENSG00000121578.13HGNC: HGNC:927UniProt: B2RAZ5
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Golgi apparatusprotein bindingbeta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activitykeratan sulfate proteoglycan biosynthetic processcutaneous lupus erythematosustransient myeloproliferative syndromepulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9reticular dysgenesis
✦AI Summary

B4GALT4 (beta-1,4-galactosyltransferase 4) is a Golgi-localized glycosyltransferase that catalyzes the transfer of galactose residues via beta-1,4 linkages to terminal N-acetylglucosamine moieties on glycoproteins and glycosphingolipids 123. Its primary function involves synthesizing N-acetyllactosamine units and participating in keratan sulfate proteoglycan biosynthesis through cooperation with sulfotransferases and glucosamine transferases 2. B4GALT4 also contributes to generating 6-sulfo-sialyl-Lewis X epitopes on mucin-type glycoproteins, which serve as ligands for L-selectin and regulate leukocyte migration 1. Enzymatic activity and proper Golgi localization require N-glycosylation at two sites, with mutations at Asn220 primarily affecting catalytic activity 4. Beyond glycan synthesis, B4GALT4 plays unexpected roles in cancer progression: it promotes hepatocellular carcinoma through microtubule spindle assembly regulation via the TGF-beta pathway 5, and it is implicated in osteoporosis development as part of an energy metabolism-related gene signature 6. Genome-wide association studies identified B4GALT4 as a suggestive locus associated with growth hormone responsiveness 7, indicating broader metabolic significance.

Sources cited
1
B4GALT4 synthesizes terminal N-acetyllactosamine units on glycoproteins and glycosphingolipids, and generates 6-sulfo-sialyl-Lewis X epitopes on mucin-type glycoproteins
PMID: 12511560
2
B4GALT4 catalyzes galactose transfer to N-acetylglucosamine in keratan sulfate proteoglycan biosynthesis, cooperating with sulfotransferases
PMID: 17690104
3
B4GALT4 transfers galactose to terminal GlcNAc in neolacto-series glycosphingolipid biosynthesis
PMID: 9792633
4
N-glycosylation at Asn220 and Asn335 is required for B4GALT4 enzymatic activity, Golgi localization, and protein stability; keratan sulfate synthesis depends on B4GALT4
PMID: 32827291
5
B4GALT4 promotes hepatocellular carcinoma progression through microtubule spindle assembly via PLK1 and RHAMM regulation in the TGF-beta pathway
PMID: 34270095
6
B4GALT4 is part of an energy metabolism-related gene signature for osteoporosis diagnosis and may regulate osteoporosis development through the DANCR/miR-23b-3p axis
PMID: 38589566
7
B4GALT4 locus shows suggestive association with growth hormone responsiveness in genome-wide association study
PMID: 32652002
8
B4GALT4 can elongate sulfated N-glycans by transferring galactose residues in chemoenzymatic synthesis applications
PMID: 35939855
Disease Associationsⓘ20
cutaneous lupus erythematosusOpen Targets
0.23Weak
transient myeloproliferative syndromeOpen Targets
0.05Suggestive
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9Open Targets
0.04Suggestive
reticular dysgenesisOpen Targets
0.03Suggestive
trauma complicationOpen Targets
0.02Suggestive
complicationOpen Targets
0.02Suggestive
medical procedureOpen Targets
0.02Suggestive
hypertensionOpen Targets
0.02Suggestive
alcohol drinkingOpen Targets
0.02Suggestive
Genu valgumOpen Targets
0.02Suggestive
Genu varumOpen Targets
0.02Suggestive
osteoporosisOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
rheumatoid arthritisOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
embryonal carcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
endometrial cancerOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
B3GNT5Protein interaction96%B3GALT5Protein interaction95%B3GNT3Protein interaction95%ST3GAL6Protein interaction95%B3GNT2Protein interaction93%B3GALT1Protein interaction93%
Tissue Expression6 tissues
Ovary
100%
Liver
92%
Bone Marrow
77%
Lung
75%
Heart
66%
Brain
55%
Gene Interaction Network
Click a node to explore
B4GALT4B3GNT5B3GALT5B3GNT3ST3GAL6B3GNT2B3GALT1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O60513
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.67 [0.49–0.93]
RankingsWhere B4GALT4 stands among ~20K protein-coding genes
  • #11,669of 20,598
    Most Researched31
  • #8,524of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedB4GALT4
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
N-glycosylation of the human β1,4-galactosyltransferase 4 is crucial for its activity and Golgi localization.
PMID: 32827291
Glycoconj J · 2020
1.00
2
The critical role of B4GALT4 in promoting microtubule spindle assembly in HCC through the regulation of PLK1 and RHAMM expression.
PMID: 34270095
J Cell Physiol · 2022
0.89
3
Development and experimental validation of an energy metabolism-related gene signature for diagnosing of osteoporosis.
PMID: 38589566
Sci Rep · 2024
0.78
4
Integration of porcine chromosome 13 maps.
PMID: 11528129
Cytogenet Cell Genet · 2001
0.67
5
SLC35B2 expression is associated with a poor prognosis of invasive ductal breast carcinoma.
PMID: 25124574
Asian Pac J Cancer Prev · 2014
0.56