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8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MGAT4C
MGAT4 family member C
Chromosome 12 · 12q21.31-q21.32
NCBI Gene: 25834Ensembl: ENSG00000182050.15HGNC: HGNC:30871UniProt: Q9UBM8
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
acetylglucosaminyltransferase activityprotein N-linked glycosylationalpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activityviral protein processinghair colorCOVID-19smoking initiationparathyroid disease
✦AI Summary

MGAT4C is a glycosyltransferase that catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core mannose residues of N-linked glycans, specifically forming GlcNAcβ1-4 branches on the GlcNAcβ1-2Manα1-3 arm [UniProt]. This enzyme is essential for producing tri- and tetra-antennary N-linked sugar chains and is a positive regulator of cell surface AC133 expression on CD133 glycoproteins 1. MGAT4C functions in the Golgi membrane and participates in viral protein processing through N-linked glycosylation [GO Annotations]. Mechanistically, pro-inflammatory cytokines alter MGAT4C expression, impacting glycosylation patterns on extracellular proteins like fibronectin and aggrecan 2. Disease relevance includes associations with osteoarthritis (altered N-glycan patterns), neurocognitive disorders (rare CNV deletion) 3, schizophrenia (somatic copy number losses at 12q21.31) 4, and autism spectrum disorder (identified as a key discriminatory biomarker, AUC=0.730) 5. Clinically, MGAT4C CNVs significantly modulate prostate cancer cell proliferation and migration, with overexpression in metastatic versus localized disease 6. Gene duplication in birds (Neoaves) suggests evolutionary importance for oxidative stress mitigation 7.

Sources cited
1
MGAT4C is a positive regulator of cell surface AC133 expression and is involved in N-glycan biosynthesis and CD133 glycoprotein processing
PMID: 21937449
2
Pro-inflammatory cytokines alter MGAT4C expression, affecting glycosylation alterations in osteoarthritis cartilage
PMID: 37308935
3
Rare CNV deletion affecting MGAT4C is associated with neurocognitive disorders in Mexican population
PMID: 33581268
4
MGAT4C somatic copy number losses at 12q21.31 are recurrently associated with schizophrenia risk
PMID: 38942348
5
MGAT4C is identified as a key feature gene for autism spectrum disorder with strong discriminatory power (AUC=0.730)
PMID: 41010054
6
MGAT4C CNV at 12q21.31 modulates prostate cancer cell proliferation and migration, with overexpression in metastatic disease
PMID: 22496589
7
MGAT4C is duplicated in Neoaves, suggesting role in oxidative stress mitigation and longevity
PMID: 37918802
Disease Associationsⓘ20
hair colorOpen Targets
0.46Moderate
COVID-19Open Targets
0.37Weak
smoking initiationOpen Targets
0.36Weak
parathyroid diseaseOpen Targets
0.28Weak
chronic pancreatitisOpen Targets
0.21Weak
duodenitisOpen Targets
0.21Weak
hypertrophic cardiomyopathyOpen Targets
0.21Weak
thyroiditisOpen Targets
0.21Weak
placenta praeviaOpen Targets
0.19Weak
BlindnessOpen Targets
0.17Weak
pernicious anemiaOpen Targets
0.17Weak
mathematical abilityOpen Targets
0.08Suggestive
frozen shoulderOpen Targets
0.06Suggestive
esophageal ulcerOpen Targets
0.03Suggestive
autoimmune thyroid diseaseOpen Targets
0.03Suggestive
ovarian neoplasmOpen Targets
0.03Suggestive
breast carcinomaOpen Targets
0.03Suggestive
osteoarthritis, kneeOpen Targets
0.02Suggestive
CoughOpen Targets
0.02Suggestive
response to angiotensin-converting enzyme inhibitorOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MGAT5BProtein interaction91%MGAT5Protein interaction78%MGAT2Shared pathway67%MGAT1Shared pathway67%MGAT4BShared pathway50%OST4Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Heart
78%
Liver
34%
Ovary
22%
Lung
12%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MGAT4CMGAT5BMGAT5MGAT2MGAT1MGAT4BOST4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9UBM8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.65LoF Tolerant
pLIⓘ
0.21Tolerant
Observed/Expected LoF0.42 [0.28–0.65]
RankingsWhere MGAT4C stands among ~20K protein-coding genes
  • #13,017of 20,598
    Most Researched25
  • #4,691of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedMGAT4C
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Gene purging and the evolution of Neoave metabolism and longevity.
PMID: 37918802
J Biol Chem · 2023
1.00
2
Recognition of a Novel Gene Signature for Human Glioblastoma.
PMID: 35456975
Int J Mol Sci · 2022
0.88
3
The Contribution of Mosaic Chromosomal Alterations to Schizophrenia.
PMID: 38942348
Biol Psychiatry · 2025
0.75
4
Characterization of aberrant glycosylation associated with osteoarthritis based on integrated glycomics methods.
PMID: 37308935
Arthritis Res Ther · 2023
0.63
5
Association of MGAT4C with major neurocognitive disorder in the Mexican population.
PMID: 33581268
Gene · 2021
0.50