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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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A4GNT
alpha-1,4-N-acetylglucosaminyltransferase
Chromosome 3 · 3q22.3
NCBI Gene: 51146Ensembl: ENSG00000118017.5HGNC: HGNC:17968UniProt: Q9UNA3
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
glycoprotein biosynthetic processacetylglucosaminyltransferase activityprotein O-linked glycosylationcarbohydrate metabolic processgenetic disorderfamilial adenomatous polyposis 3Barrett's esophagusattenuated familial adenomatous polyposis
✦AI Summary

A4GNT encodes alpha-1,4-N-acetylglucosaminyltransferase (α4GnT), which catalyzes the transfer of N-acetylglucosamine residues to galactose on O-glycans, particularly core 2 branched structures on gastric mucins 1. The enzyme is essential for synthesizing type III mucin with terminal α1,4-linked N-acetylglucosamine (αGlcNAc) residues, specifically produced in the stomach, duodenum, and pancreatic duct 1. Mechanistically, αGlcNAc functions as a dual-action tumor suppressor. A4gnt-knockout mice spontaneously develop gastric adenocarcinoma through hyperplasia-dysplasia-carcinoma progression without H. pylori infection, demonstrating that αGlcNAc loss triggers tumorigenesis via inflammation-associated pathways, including upregulation of inflammatory chemokines (Ccl2, Cxcl1) and growth factors (Il-11, Hgf) 1. Additionally, αGlcNAc suppresses H. pylori colonization in gastric glands 1. Clinically, reduced αGlcNAc expression on MUC6-positive gastric cancer cells significantly correlates with invasion depth, stage, venous invasion, and poor prognosis in differentiated-type adenocarcinomas 2. Loss of αGlcNAc also serves as a biomarker for malignant potential in premalignant lesions including chr3 atrophic gastritis, pyloric gland adenoma, Barrett's esophagus, and pancreatic intraductal neoplasms 3. Genetic variation in A4GNT associates with H. pylori infection susceptibility 4. These findings establish A4GNT-mediated glycosylation as critical for gastric cancer prevention and a promising therapeutic target.

Sources cited
1
A4GNT catalyzes αGlcNAc synthesis on gastric mucins; A4gnt(-/-) mice develop gastric adenocarcinoma through inflammation-associated pathways independent of H. pylori
PMID: 22307328
2
αGlcNAc loss correlates with invasion depth, stage, venous invasion, and poor prognosis in MUC6-positive differentiated-type gastric adenocarcinoma
PMID: 24138592
3
Reduced αGlcNAc serves as a biomarker for malignant potential in gastric, Barrett's, and pancreatic premalignant lesions
PMID: 29658052
4
A4GNT genetic variation associates with H. pylori infection risk
PMID: 19751437
5
A4gnt deficiency causes aberrant glycosylation patterns and gastric tumorigenesis through Golgi stress responses
PMID: 38583723
6
A4gnt knockout mice spontaneously develop gastric dysplasia and adenocarcinoma; anti-inflammatory interventions modulate cancer-promoting gene expression
PMID: 34210998
7
A4gnt deficiency drives gastric adenocarcinoma; sulfomucins partially modulate inflammation-related genes but do not prevent cancer development
PMID: 31246144
Disease Associationsⓘ20
genetic disorderOpen Targets
0.12Weak
familial adenomatous polyposis 3Open Targets
0.05Suggestive
Barrett's esophagusOpen Targets
0.05Suggestive
attenuated familial adenomatous polyposisOpen Targets
0.04Suggestive
hyperplastic polyposis syndromeOpen Targets
0.04Suggestive
CDH1-related diffuse gastric and lobular breast cancer syndromeOpen Targets
0.04Suggestive
Familial gastric cancerOpen Targets
0.04Suggestive
pancreatic adenocarcinomaOpen Targets
0.04Suggestive
inflammatory bowel disease 30Open Targets
0.04Suggestive
colorectal adenocarcinomaOpen Targets
0.04Suggestive
colorectal cancerOpen Targets
0.04Suggestive
colorectal neoplasmOpen Targets
0.04Suggestive
Muir-Torre syndromeOpen Targets
0.04Suggestive
NK-cell enteropathyOpen Targets
0.04Suggestive
chronic intestinal pseudoobstructionOpen Targets
0.04Suggestive
hereditary mixed polyposis syndromeOpen Targets
0.03Suggestive
APC-related attenuated familial adenomatous polyposisOpen Targets
0.03Suggestive
gastrointestinal stromal tumorOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.03Suggestive
gastric mucosal hypertrophyOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MUC6Protein interaction84%GCNT3Shared pathway75%POMGNT1Shared pathway75%GALNT7Shared pathway75%GCNT4Protein interaction73%ST6GALNAC2Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
41%
Liver
41%
Lung
36%
Brain
0%
Heart
0%
Gene Interaction Network
Click a node to explore
A4GNTMUC6GCNT3POMGNT1GALNT7GCNT4ST6GALNAC2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9UNA3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.38LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.70 [0.38–1.38]
RankingsWhere A4GNT stands among ~20K protein-coding genes
  • #15,476of 20,598
    Most Researched15
  • #14,341of 17,882
    Most Constrained (LOEUF)1.38
Genes detectedA4GNT
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Impaired Glycosylation of Gastric Mucins Drives Gastric Tumorigenesis and Serves as a Novel Therapeutic Target.
PMID: 38583723
Gastroenterology · 2024
1.00
2
Essential role of gastric gland mucin in preventing gastric cancer in mice.
PMID: 22307328
J Clin Invest · 2012
0.90
3
Effects of orally administered Euglena gracilis and its reserve polysaccharide, paramylon, on gastric dysplasia in A4gnt knockout mice.
PMID: 34210998
Sci Rep · 2021
0.80
4
Exploring Potential Drug Targets in Multiple Cardiovascular Diseases: A Study Based on Proteome-Wide Mendelian Randomization and Colocalization Analysis.
PMID: 40026415
Cardiovasc Ther · 2025
0.70
5
Analysis of
PMID: 31246144
J Histochem Cytochem · 2019
0.60