HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 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.
B4GALT2
beta-1,4-galactosyltransferase 2
Chromosome 1 · 1p34.1
NCBI Gene: 8704Ensembl: ENSG00000117411.19HGNC: HGNC:925UniProt: O60909
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activityGolgi apparatusgalactosyltransferase activityGolgi membraneneurodegenerative diseaseParkinson diseaselysosomal storage diseasemultiple sclerosis
✦AI Summary

B4GALT2 (beta-1,4-galactosyltransferase 2) is a Golgi-localized glycosyltransferase responsible for synthesizing complex-type N-linked oligosaccharides in glycoproteins and carbohydrate moieties of glycolipids, with capacity to produce lactose 1. Beyond its canonical glycosylation function, B4GALT2 has emerged as a multifactorial disease regulator. In lung adenocarcinoma, elevated B4GALT2 expression promotes immune exclusion by depleting CD8+ T lymphocytes and creating immunologically cold tumors; B4GALT2 suppression enhances anti-PD-1 immunotherapy efficacy by increasing activated CD8+ T cell populations 2. B4GALT2 serves as a promising blood-based biomarker for hepatocellular carcinoma detection, showing superior diagnostic performance to alpha-fetoprotein in early-stage disease 3. In neuropsychiatric contexts, B4GALT2 shows differential expression in suicide-related conditions, with altered histone acetylation patterns suggesting epigenetic regulation 4. Additionally, B4GALT2 functions as an energy metabolism-related gene contributing to osteoporosis pathogenesis 5 and brain gene expression changes in chr1 pain, particularly in the dorsal anterior cingulate cortex 6. Pharmacogenetically, the B4GALT2 c.909C>T variant influences clopidogrel platelet reactivity and bleeding risk in antiplatelet therapy 78. These findings indicate B4GALT2's pleiotropic role extending beyond glycosylation to immune regulation, disease biomarking, and pharmacogenetic outcomes.

Sources cited
1
B4GALT2 synthesizes complex-type N-linked oligosaccharides in glycoproteins and glycolipid carbohydrates; can produce lactose
PMID: 9405390
2
B4GALT2 is a crucial immune exclusion regulator in lung adenocarcinoma; elevated expression correlates with CD8+ T cell depletion and unfavorable outcomes; B4GALT2 suppression enhances anti-PD-1 immunotherapy efficacy
PMID: 40010763
3
B4GALT2 identified as a promising HCC-associated biomarker in extracellular vesicles with superior diagnostic performance over AFP for early-stage HCC detection
PMID: 39954520
4
B4GALT2 shows differential expression in suicide-related conditions with altered H3K14ac histone modification levels
PMID: 38545853
5
B4GALT2 is an energy metabolism-related gene involved in osteoporosis development with diagnostic model AUC of 0.790
PMID: 38589566
6
B4GALT2 is differentially expressed in chronic pain, specifically in dorsal anterior cingulate cortex
PMID: 40623285
7
B4GALT2 c.909C>T variant is an independent genetic predictor of on-treatment platelet reactivity in clopidogrel therapy
PMID: 30020015
8
B4GALT2 rs1061781 polymorphism associated with increased stroke and transient ischemic attack risk in patients receiving antithrombotic therapy
PMID: 35073541
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.49Moderate
Alzheimer diseaseOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.46Moderate
Parkinson diseaseOpen Targets
0.46Moderate
intelligenceOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.04Suggestive
intellectual developmental disorder, X-linked 114Open Targets
0.04Suggestive
lung adenocarcinomaOpen Targets
0.04Suggestive
autosomal recessive spastic paraplegia type 66Open Targets
0.03Suggestive
leukoencephalopathy with vanishing white matter 5Open Targets
0.03Suggestive
schizophreniaOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
parasitic infectionOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
colon carcinomaOpen Targets
0.02Suggestive
colitisOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
atrial fibrillationOpen Targets
0.01Suggestive
melanomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IDNKShared pathway100%GLT6D1Shared pathway100%LANCL3Shared pathway100%HEXDShared pathway100%KLBShared pathway100%YDJCShared pathway100%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
Click a node to explore
B4GALT2IDNKGLT6D1LANCL3HEXDKLBYDJC
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O60909
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.53 [0.37–0.79]
RankingsWhere B4GALT2 stands among ~20K protein-coding genes
  • #11,860of 20,598
    Most Researched30
  • #6,490of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedB4GALT2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Novel post-translational modification learning signature reveals B4GALT2 as an immune exclusion regulator in lung adenocarcinoma.
PMID: 40010763
J Immunother Cancer · 2025
1.00
2
Tidal microfluidic chip-based isolation and transcriptomic profiling of plasma extracellular vesicles for clinical monitoring of high-risk patients with hepatocellular carcinoma-associated precursors.
PMID: 39954520
Biosens Bioelectron · 2025
0.90
3
Identifying novel proteins for suicide attempt by integrating proteomes from brain and blood with genome-wide association data.
PMID: 38317018
Neuropsychopharmacology · 2024
0.80
4
Epigenetics and suicide: investigating altered H3K14ac unveiled differential expression in
PMID: 38545853
Epigenomics · 2024
0.70
5
Development and experimental validation of an energy metabolism-related gene signature for diagnosing of osteoporosis.
PMID: 38589566
Sci Rep · 2024
0.60