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MGAT4C

gene
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Also known as HGNT-IV-H

Summary

MGAT4C (MGAT4 family member C, HGNC:30871) is a protein-coding gene on chromosome 12q21.31-q21.32, encoding Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C (Q9UBM8). Glycosyltransferase that participates in the transfer of N-acetylglucosamine (GlcNAc) to the core mannose residues of N-linked glycans.

Predicted to enable acetylglucosaminyltransferase activity. Predicted to be involved in protein N-linked glycosylation. Predicted to be located in Golgi membrane.

Source: NCBI Gene 25834 — RefSeq curated summary.

At a glance

  • GWAS associations: 11
  • Clinical variants (ClinVar): 56 total
  • MANE Select transcript: NM_001351288

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:30871
Approved symbolMGAT4C
NameMGAT4 family member C
Location12q21.31-q21.32
Locus typegene with protein product
StatusApproved
AliasesHGNT-IV-H
Ensembl geneENSG00000182050
Ensembl biotypeprotein_coding
OMIM607385
Entrez25834

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 20 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000547225, ENST00000548651, ENST00000550365, ENST00000551751, ENST00000551921, ENST00000552435, ENST00000552808, ENST00000602941, ENST00000611864, ENST00000620241, ENST00000621808, ENST00000899085, ENST00000899086, ENST00000899087, ENST00000899088, ENST00000899089, ENST00000929698, ENST00000929699, ENST00000929700, ENST00000929701, ENST00000929702, ENST00000929703, ENST00000941410, ENST00000941411

RefSeq mRNA: 10 — MANE Select: NM_001351288 NM_001351282, NM_001351283, NM_001351284, NM_001351285, NM_001351286, NM_001351287, NM_001351288, NM_001351289, NM_001351291, NM_013244

CCDS: CCDS9030

Canonical transcript exons

ENST00000611864 — 5 exons

ExonStartEnd
ENSE000013250788598352385983670
ENSE000023292828604967486049723
ENSE000036604048598940085989552
ENSE000039323928625623986256391
ENSE000039334228595566785980430

Expression profiles

Bgee: expression breadth ubiquitous, 117 present calls, max score 83.96.

FANTOM5 (CAGE): breadth broad, TPM avg 2.0149 / max 163.1292, expressed in 193 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter IDTPM avgSamples expressed
1323730.5413122
1323710.2647104
1323880.220860
1323720.212588
1323850.205952
1323870.185856
1323740.173478
1323900.066039
1323860.058427
1323840.02769

Top tissues by expression

131 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
ventricular zoneUBERON:000305383.96gold quality
corpus callosumUBERON:000233681.05gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047379.90gold quality
thyroid glandUBERON:000204677.01gold quality
left lobe of thyroid glandUBERON:000112076.33gold quality
cortical plateUBERON:000534375.99gold quality
testisUBERON:000047375.88gold quality
right lobe of thyroid glandUBERON:000111975.58gold quality
left testisUBERON:000453375.57gold quality
right testisUBERON:000453475.15gold quality
superior frontal gyrusUBERON:000266174.22gold quality
islet of LangerhansUBERON:000000673.49gold quality
nucleus accumbensUBERON:000188273.21gold quality
ganglionic eminenceUBERON:000402373.13gold quality
caudate nucleusUBERON:000187372.64gold quality
prefrontal cortexUBERON:000045172.18gold quality
putamenUBERON:000187471.43gold quality
frontal cortexUBERON:000187070.40gold quality
anterior cingulate cortexUBERON:000983570.11gold quality
cerebral cortexUBERON:000095669.06gold quality
primary visual cortexUBERON:000243668.87gold quality
amygdalaUBERON:000187668.65gold quality
temporal lobeUBERON:000187168.52gold quality
Brodmann (1909) area 9UBERON:001354068.35gold quality
dorsolateral prefrontal cortexUBERON:000983468.28gold quality
right frontal lobeUBERON:000281067.58gold quality
hypothalamusUBERON:000189867.50gold quality
brainUBERON:000095567.12gold quality
pituitary glandUBERON:000000766.84gold quality
heart left ventricleUBERON:000208466.65gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

ExperimentMarker?Max mean expression
E-HCAD-35yes64.53
E-HCAD-25yes9.08
E-ANND-3yes8.22

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

  • Association of MGAT4C with major neurocognitive disorder in the Mexican population. (PMID:33581268)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriomgat4cENSDARG00000041791
mus_musculusMgat4cENSMUSG00000019888
rattus_norvegicusMgat4cENSRNOG00000004149
drosophila_melanogasterMgat4aFBGN0036446
drosophila_melanogasterMgat4bFBGN0036447

Paralogs (3): MGAT4A (ENSG00000071073), MGAT4B (ENSG00000161013), MGAT4D (ENSG00000205301)

Protein

Protein identifiers

Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C — Q9UBM8 (reviewed: Q9UBM8)

Alternative names: N-acetylglucosaminyltransferase IV homolog, N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVc, UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVc

All UniProt accessions (3): Q9UBM8, F8VTY5, F8VWY2

UniProt curated annotations — full annotation on UniProt →

Function. Glycosyltransferase that participates in the transfer of N-acetylglucosamine (GlcNAc) to the core mannose residues of N-linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains. Does not catalyze the transfer of GlcNAc to the Manalpha1-6 arm to form GlcNAcBeta1-4Manalpha1-6 linkage (‘GnT-VI’ activity).

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Expressed in heart, adrenal gland, testis, liver, brain and fetal brain. Not expressed in pancreas.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 54 family.

Isoforms (2)

UniProt IDNamesCanonical?
Q9UBM8-11yes
Q9UBM8-22

RefSeq proteins (10): NP_001338211, NP_001338212, NP_001338213, NP_001338214, NP_001338215, NP_001338216, NP_001338217, NP_001338218, NP_001338220, NP_037376 (=MANE)

Domains & families (InterPro)

IDNameType
IPR006759Glyco_transf_54Family
IPR056576MGAT4_A/B/C_CDomain
IPR057279MGAT4Domain

Pfam: PF04666, PF23524

Catalyzed reactions (Rhea), 1 shown:

  • N(4)-{beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP + H(+) (RHEA:16057)

UniProt features (8 total): topological domain 2, glycosylation site 2, chain 1, transmembrane region 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9UBM8-F187.040.69

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (2): 84, 215

Function

Pathways and Gene Ontology

Reactome pathways

14 pathways

IDPathway
R-HSA-9694548Maturation of spike protein
R-HSA-975577N-Glycan antennae elongation
R-HSA-1643685Disease
R-HSA-392499Metabolism of proteins
R-HSA-446203Asparagine N-linked glycosylation
R-HSA-5663205Infectious disease
R-HSA-597592Post-translational protein modification
R-HSA-948021Transport to the Golgi and subsequent modification
R-HSA-9679506SARS-CoV Infections
R-HSA-9694516SARS-CoV-2 Infection
R-HSA-9694635Translation of Structural Proteins
R-HSA-975576N-glycan antennae elongation in the medial/trans-Golgi
R-HSA-9772573Late SARS-CoV-2 Infection Events
R-HSA-9824446Viral Infection Pathways

MSigDB gene sets: 111 (showing top): LFA1_Q6, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, EVI1_05, CDP_01, YY1_02, BRN2_01, chr12q21, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, TGCTGAY_UNKNOWN, TGIF_01, OCT1_07, HNF1_C, GATA1_02, RGAGGAARY_PU1_Q6

GO Biological Process (3): protein N-linked glycosylation (GO:0006487), viral protein processing (GO:0019082), obsolete protein glycosylation (GO:0006486)

GO Molecular Function (5): acetylglucosaminyltransferase activity (GO:0008375), alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454), metal ion binding (GO:0046872), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-12 pathways:

CategoryPathways
Translation of Structural Proteins1
N-glycan antennae elongation in the medial/trans-Golgi1
Post-translational protein modification1
Disease1
Metabolism of proteins1
Asparagine N-linked glycosylation1
Viral Infection Pathways1
SARS-CoV Infections1
Late SARS-CoV-2 Infection Events1
Transport to the Golgi and subsequent modification1
SARS-CoV-2 Infection1
Infectious disease1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
glycoprotein biosynthetic process1
viral process1
viral gene expression1
UDP-glycosyltransferase activity1
hexosyltransferase activity1
acetylglucosaminyltransferase activity1
catalytic activity, acting on a glycoprotein1
cation binding1
catalytic activity1
transferase activity1
Golgi apparatus1
bounding membrane of organelle1
cytoplasm1
endomembrane system1
intracellular membrane-bounded organelle1
cellular anatomical structure1

Protein interactions and networks

STRING

770 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MGAT4CMGAT5Q09328565
MGAT4CMGAT5BQ3V5L5518
MGAT4CTMEM263Q8WUH6479
MGAT4CTCP11L2Q8N4U5433
MGAT4CSUSD4Q5VX71421
MGAT4CM0QYU9M0QYU9417
MGAT4CKLHL17Q6TDP4408
MGAT4CNUDT17P0C025404
MGAT4CSMIM7Q9BQ49399
MGAT4CPPP1R1CQ8WVI7396
MGAT4CST6GAL2Q96JF0394
MGAT4CCDK17Q00537389
MGAT4CB4GALT2O60909388
MGAT4CGXYLT2A0PJZ3386
MGAT4CPOLR3CQ9BUI4382

IntAct

3 interactions, top by confidence:

ABTypeScore
MGAT4CGXYLT2psi-mi:“MI:0914”(association)0.530

BioGRID (65): GAL (Affinity Capture-MS), METRN (Affinity Capture-MS), PCSK1N (Affinity Capture-MS), HTRA1 (Affinity Capture-MS), HAPLN3 (Affinity Capture-MS), ITGA2 (Affinity Capture-MS), DSE (Affinity Capture-MS), NMU (Affinity Capture-MS), GLT8D2 (Affinity Capture-MS), GALNT12 (Affinity Capture-MS), KIAA0319L (Affinity Capture-MS), TMEM132A (Affinity Capture-MS), GXYLT2 (Affinity Capture-MS), GYLTL1B (Affinity Capture-MS), B4GALT6 (Affinity Capture-MS)

ESM2 similar proteins: A0A0A1H7M6, A1YGR5, A1YGR6, E9KID2, E9KID3, G7LG31, O00469, O36022, O43909, O74745, P14769, P23336, P27810, P32629, P39107, P50127, P53697, P97259, Q00314, Q08834, Q09199, Q09328, Q1L8D2, Q3L7M0, Q3U4G3, Q494Q2, Q4R4A8, Q4WV44, Q5GF25, Q5RD93, Q5SRI9, Q5ZLK4, Q6DE40, Q6NXH2, Q811A3, Q8R4G6, Q8SQ20, Q8VXZ5, Q8W486, Q8W4E6

Diamond homologs: A4IID1, A6NG13, O77836, Q4R4A8, Q4R854, Q4V8F8, Q5F407, Q5M854, Q5REP8, Q5U3T0, Q6GMK0, Q6GQI7, Q6ITT3, Q812F8, Q812G0, Q9D306, Q9D4R2, Q9DGD1, Q9UBM8, Q9UM21, Q9UQ53, A6H684

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

56 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance48
Likely benign3
Benign2

Top pathogenic / likely-pathogenic (0)

SpliceAI

3711 predictions. Top by Δscore:

VariantEffectΔscore
12:85983517:ACTT:Adonor_loss1.0000
12:85983519:TTACG:Tdonor_loss1.0000
12:85983520:TACGC:Tdonor_loss1.0000
12:85983521:A:ACdonor_gain1.0000
12:85983521:ACG:Adonor_gain1.0000
12:85983522:C:Adonor_loss1.0000
12:85983522:C:CGdonor_gain1.0000
12:85983522:CG:Cdonor_gain1.0000
12:85983522:CGC:Cdonor_gain1.0000
12:85983522:CGCT:Cdonor_gain1.0000
12:85983522:CGCTT:Cdonor_gain1.0000
12:85983669:TC:Tacceptor_gain1.0000
12:85983669:TCC:Tacceptor_loss1.0000
12:85983670:CC:Cacceptor_gain1.0000
12:85983671:C:Aacceptor_loss1.0000
12:85983671:C:CCacceptor_gain1.0000
12:85983672:T:Gacceptor_loss1.0000
12:85983679:C:CTacceptor_gain1.0000
12:85983680:A:Tacceptor_gain1.0000
12:85989458:C:CAdonor_gain1.0000
12:86049669:CTCAC:Cdonor_loss1.0000
12:86049670:TCACC:Tdonor_loss1.0000
12:86049672:A:Cdonor_loss1.0000
12:86049673:C:CAdonor_loss1.0000
12:86334063:A:ACdonor_gain1.0000
12:86334064:C:CCdonor_gain1.0000
12:86380500:T:TAdonor_gain1.0000
12:86435155:A:ACdonor_gain1.0000
12:86435155:A:Tdonor_loss1.0000
12:86435156:C:CCdonor_gain1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000005139 (12:85964027 T>C,G), RS1000007890 (12:86187944 C>G), RS1000010410 (12:86744878 A>G), RS1000025480 (12:86058068 G>A), RS1000042741 (12:86703218 T>C), RS1000045757 (12:86578569 T>G), RS1000048585 (12:85975265 T>G), RS1000048934 (12:86319111 G>A), RS1000053419 (12:86008440 T>C), RS1000055550 (12:86063299 A>C), RS1000062744 (12:86744663 A>G), RS1000065708 (12:86370569 T>C), RS1000070095 (12:86505373 C>T), RS1000070256 (12:86713389 G>A,C), RS1000070594 (12:86185127 C>A,T)

Disease associations

OMIM: gene MIM:607385 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

11 associations (top):

StudyTraitp-value
GCST002930_2Cobalt levels9.000000e-07
GCST003264_1607Post bronchodilator FEV1/FVC ratio1.000000e-06
GCST003264_411Post bronchodilator FEV1/FVC ratio5.000000e-07
GCST003264_446Post bronchodilator FEV1/FVC ratio7.000000e-07
GCST003264_449Post bronchodilator FEV1/FVC ratio7.000000e-07
GCST003264_798Post bronchodilator FEV1/FVC ratio4.000000e-07
GCST003264_804Post bronchodilator FEV1/FVC ratio7.000000e-07
GCST003264_846Post bronchodilator FEV1/FVC ratio1.000000e-06
GCST007327_63Smoking status (ever vs never smokers)4.000000e-08
GCST007394_1Mitochondrial DNA copy number9.000000e-07
GCST011769_4Schizophrenia2.000000e-08

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0004713FEV/FVC ratio
EFO:0004318smoking behavior
EFO:0006312mitochondrial DNA measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, decreases expression, decreases methylation, increases expression3
aristolochic acid Idecreases expression1
bisphenol Aaffects cotreatment, decreases methylation, increases methylation1
S-(1,2-dichlorovinyl)cysteineaffects response to substance, increases expression, affects cotreatment1
Am 580decreases expression1
2-palmitoylglycerolincreases expression1
(+)-JQ1 compounddecreases expression1
excavatolide Bdecreases expression1
Rosiglitazonedecreases expression1
Decitabineaffects expression1
Fulvestrantaffects cotreatment, decreases methylation1
Cadmiumdecreases expression, increases abundance1
Cisplatinaffects expression1
Lipopolysaccharidesaffects response to substance, affects cotreatment, increases expression1
Rotenonedecreases expression1
Silicon Dioxideincreases expression1
Tretinoinincreases expression1
Triclosanincreases expression1
1-Methyl-4-phenylpyridiniumdecreases expression1
Aflatoxin B1increases methylation1
Asbestos, Serpentineincreases methylation1
Cadmium Chloridedecreases expression, increases abundance1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 75

This page pulls from 75 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot