HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
B3GNT6
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6
Chromosome 11 Β· 11q13.5
NCBI Gene: 192134Ensembl: ENSG00000198488.11HGNC: HGNC:24141UniProt: Q6ZMB0
11PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
galactosyltransferase activityGolgi membraneUDP-glycosyltransferase activitypoly-N-acetyllactosamine biosynthetic processneurodegenerative diseaseRare pervasive developmental disorderacquired thrombocytopeniacolorectal cancer
✦AI Summary

B3GNT6 encodes a beta-1,3-N-acetylglucosaminyltransferase that plays a crucial role in O-glycan biosynthesis, specifically synthesizing core 3 structures that are important precursors for mucin-type glycoproteins in digestive organs 1. The enzyme demonstrates substrate specificity influenced by flanking charge preferences, being less affected by charge compared to other O-glycosyltransferases like C1GALT1 1. In colorectal cancer, B3GNT6 functions as a tumor suppressor gene, with downregulation associated with poor patient outcomes and reduced overall survival 2. Low B3GNT6 expression correlates with chromosome 11, KRAS mutations, and increased proteasome activity 2. The gene shows simultaneous low expression with other tumor suppressors CLCA1 and UGT2A3, and restoration of these genes through miRNA inhibition can suppress colon cancer cell proliferation and metastasis 3. B3GNT6 expression is also associated with m6A methylation patterns in colorectal cancer and correlates with clinical stage and prognosis 4. Additionally, high B3GNT6 expression in mucinous gastric adenocarcinoma contributes to favorable prognosis 5, and its downregulation drives immature glycosylation phenotypes associated with cancer aggressiveness 6.

Sources cited
1
B3GNT6 synthesizes core 3 O-glycan structures and shows specific charge preferences for substrate recognition
PMID: 40063838
2
B3GNT6 downregulation in colorectal cancer is associated with poor outcomes, chromosome instability, and KRAS mutations
PMID: 35387659
3
B3GNT6 acts as tumor suppressor alongside CLCA1 and UGT2A3, and restoration inhibits colon cancer progression
PMID: 36855796
4
B3GNT6 expression correlates with clinical stage and prognosis in colorectal cancer through m6A methylation
PMID: 35087827
5
High B3GNT6 expression in mucinous gastric adenocarcinoma contributes to favorable prognosis
PMID: 35534656
6
B3GNT6 downregulation drives immature glycosylation phenotypes associated with cancer aggressiveness
PMID: 41559728
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.28Weak
Rare pervasive developmental disorderOpen Targets
0.27Weak
acquired thrombocytopeniaOpen Targets
0.24Weak
colorectal cancerOpen Targets
0.09Suggestive
cancerOpen Targets
0.05Suggestive
placenta praeviaOpen Targets
0.05Suggestive
Autosomal recessive early-onset inflammatory bowel diseaseOpen Targets
0.05Suggestive
familial adenomatous polyposis 3Open Targets
0.04Suggestive
Li-Fraumeni syndromeOpen Targets
0.04Suggestive
NK-cell enteropathyOpen Targets
0.04Suggestive
T-B+ severe combined immunodeficiency due to JAK3 deficiencyOpen Targets
0.04Suggestive
attenuated familial adenomatous polyposisOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiencyOpen Targets
0.04Suggestive
combined immunodeficiency due to ZAP70 deficiencyOpen Targets
0.04Suggestive
isolated agammaglobulinemiaOpen Targets
0.04Suggestive
juvenile polyposis syndromeOpen Targets
0.04Suggestive
hereditary mixed polyposis syndromeOpen Targets
0.04Suggestive
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveOpen Targets
0.04Suggestive
gastrointestinal stromal tumorOpen Targets
0.04Suggestive
Pathogenic Variants1
NM_138706.5(B3GNT6):c.552C>G (p.Asp184Glu)Likely pathogenic
Childhood-onset schizophrenia
β˜…β˜†β˜†β˜†2014β†’ Residue 184
View on ClinVar β†—
Related Genes
GCNT3Protein interaction97%GALNT1Protein interaction96%GALNT2Protein interaction96%GALNT3Protein interaction96%GALNT4Protein interaction96%GALNT6Protein interaction96%
Tissue Expression6 tissues
Ovary
100%
Liver
83%
Lung
73%
Brain
63%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
B3GNT6GCNT3GALNT1GALNT2GALNT3GALNT4GALNT6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6ZMB0
View on AlphaFold β†—
RankingsWhere B3GNT6 stands among ~20K protein-coding genes
  • #16,674of 20,598
    Most Researched11
  • #5,466of 5,498
    Most Pathogenic Variants1
Genes detectedB3GNT6
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Identification of gene and microRNA changes in response to smoking in human airway epithelium by bioinformatics analyses.
PMID: 31568004
Medicine (Baltimore) Β· 2019
1.00
2
G-quadruplex-enhanced circular single-stranded DNA (G4-CSSD) adsorption of miRNA to inhibit colon cancer progression.
PMID: 36855796
Cancer Med Β· 2023
0.90
3
Downregulation of B3GNT6 is a predictor of poor outcomes in patients with colorectal cancer.
PMID: 35387659
World J Surg Oncol Β· 2022
0.80
4
PMID: 34976003
Front Genet Β· 2021
0.70
5
Comprehensive Analysis of Differentially Expressed Profiles of mRNA N6-Methyladenosine in Colorectal Cancer.
PMID: 35087827
Front Cell Dev Biol Β· 2021
0.60