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4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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MGAT4D
MGAT4 family member D
Chromosome 4 Β· 4q31.1
NCBI Gene: 152586Ensembl: ENSG00000205301.12HGNC: HGNC:43619UniProt: A6NG13
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
acetylglucosaminyltransferase activityprotein N-linked glycosylationendoplasmic reticulumendoplasmic reticulum-Golgi intermediate compartmentesophageal adenocarcinomaesophageal canceresophageal squamous cell carcinomaBarrett's esophagus
✦AI Summary

MGAT4D is a Golgi-localized protein that functions as a specific inhibitor of MGAT1 (mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase), the enzyme initiating complex and hybrid N-glycan synthesis 1. The inhibitory mechanism is mediated by MGAT4D's luminal domain, which directly interacts with MGAT1 in the Golgi without generating catalytic activity 1. This interaction causes cell surface proteins to accumulate high mannose N-glycans instead of complex glycans 2. The C-terminal PSLFQ sequence is critical for MGAT1 inhibition, with Leu-395 and Phe-396 being essential residues 2. MGAT4D transcripts are predominantly expressed in spermatocytes and spermatids, suggesting a role in male spermatogenesis and Sertoli-germ cell interactions 1. Reduced MGAT4D expression has been observed in men with impaired spermatogenesis 1. Additionally, MGAT4D variants show significant gene-based association with blood pressure phenotypes in genome-wide interaction studies with sodium 3, indicating potential involvement in cardiovascular regulation independent of its glycosylation function.

Sources cited
1
MGAT4D inhibits MGAT1 via its luminal domain in the Golgi, with predominant expression in spermatocytes/spermatids and reduced expression in men with impaired spermatogenesis
PMID: 26371870
2
MGAT4D-L C-terminal PSLFQ sequence is essential for MGAT1 inhibition, with Leu-395 and Phe-396 being critical residues
PMID: 32763972
3
MGAT4D gene-based association with blood pressure phenotypes in genome-wide sodium interaction study
PMID: 27271309
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
esophageal adenocarcinomaOpen Targets
0.05Suggestive
esophageal cancerOpen Targets
0.05Suggestive
esophageal squamous cell carcinomaOpen Targets
0.05Suggestive
Barrett's esophagusOpen Targets
0.05Suggestive
gastroesophageal reflux diseaseOpen Targets
0.04Suggestive
portal hypertensionOpen Targets
0.04Suggestive
esophageal atresia/tracheoesophageal fistulaOpen Targets
0.04Suggestive
pancreatic adenocarcinomaOpen Targets
0.04Suggestive
visceral myopathy 2Open Targets
0.03Suggestive
neuronal ceroid lipofuscinosis 1Open Targets
0.03Suggestive
X-linked diffuse leiomyomatosis - Alport syndromeOpen Targets
0.03Suggestive
major depressive disorderOpen Targets
0.03Suggestive
type 2 diabetes mellitusOpen Targets
0.03Suggestive
retinal vascular disorderOpen Targets
0.02Suggestive
infectious meningitisOpen Targets
0.02Suggestive
ovarian neoplasmOpen Targets
0.02Suggestive
adolescent idiopathic scoliosisOpen Targets
0.02Suggestive
smoking initiationOpen Targets
0.02Suggestive
Sertoli Cell-Only SyndromeOpen Targets
0.00Suggestive
Bartsocas-Papas syndrome 1Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
FUT8Protein interaction91%MGAT2Protein interaction91%MGAT3Protein interaction91%MGAT5Protein interaction91%MGAT4AProtein interaction91%MGAT4BProtein interaction79%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
0%
Ovary
0%
Lung
0%
Heart
0%
Brain
0%
Gene Interaction Network
Click a node to explore
MGAT4DFUT8MGAT2MGAT3MGAT5MGAT4AMGAT4B
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt A6NG13
View on AlphaFold β†—
RankingsWhere MGAT4D stands among ~20K protein-coding genes
  • #17,105of 20,598
    Most Researched10
Genes detectedMGAT4D
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
GnT1IP-L specifically inhibits MGAT1 in the Golgi via its luminal domain.
PMID: 26371870
Elife Β· 2015
1.00
2
Point mutations that inactivate MGAT4D-L, an inhibitor of MGAT1 and complex
PMID: 32763972
J Biol Chem Β· 2020
0.75
3
Genome-Wide Gene-Sodium Interaction Analyses on Blood Pressure: The Genetic Epidemiology Network of Salt-Sensitivity Study.
PMID: 27271309
Hypertension Β· 2016
0.50
4
Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.
PMID: 28468790
Circ Cardiovasc Genet Β· 2017
0.25