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MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase [ Homo sapiens (human) ]

Gene ID: 4247, updated on 5-Mar-2024

Summary

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Official Symbol
MGAT2provided by HGNC
Official Full Name
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:7045
See related
Ensembl:ENSG00000168282 MIM:602616; AllianceGenome:HGNC:7045
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GNT2; CDG2A; CDGS2; GNT-II; GLCNACTII
Summary
The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Annotation information
Note: MGAT2 (Gene ID: 4247) and MOGAT2 (Gene ID: 80168) share the MGAT2 symbol/alias in common. MGAT2 is a widely used alternative name for monoacylglycerol O-acyltransferase 2 (MOGAT2), which can be confused with the official symbol for MGAT2, mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase. [25 Jun 2018]
Orthologs
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Genomic context

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Location:
14q21.3
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (49620799..49623481)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (43819023..43821705)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50087517..50090199)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50065755-50066525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5696 Neighboring gene ras homolog family member Q pseudogene 1 Neighboring gene leucine rich repeat protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5697 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50087617-50088167 Neighboring gene ribosomal protein L36a like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8318 Neighboring gene dynein axonemal assembly factor 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50099325-50100085 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5699 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50100846-50101606 Neighboring gene Sharpr-MPRA regulatory region 10705 Neighboring gene DNA polymerase epsilon 2, accessory subunit Neighboring gene serine/threonine kinase 16 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature. Poskanzer SA, et al. Am J Med Genet A, 2021 Jan. PMID 33044030, Free PMC Article
  2. Heterologous expression, purification and characterization of human β-1,2-N-acetylglucosaminyltransferase II using a silkworm-based Bombyx mori nucleopolyhedrovirus bacmid expression system. Miyazaki T, et al. J Biosci Bioeng, 2018 Jul. PMID 29409697
  3. Transcriptional regulation of the human UDP-GlcNAc:alpha-6-D-mannoside beta-1-2-N-acetylglucosaminyltransferase II gene (MGAT2) which controls complex N-glycan synthesis. Chen SH, et al. Glycoconj J, 1998 Mar. PMID 9579808
  4. Human N-acetylglucosaminyltransferase II substrate recognition uses a modular architecture that includes a convergent exosite. Kadirvelraj R, et al. Proc Natl Acad Sci U S A, 2018 May 1. PMID 29666272, Free PMC Article
  5. Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism. Cormier-Daire V, et al. J Med Genet, 2000 Nov. PMID 11228641, Free PMC Article

See all (51) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
    Title: Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
  2. The recombinant hGnTII was purified from silkworm larval hemolymph in two steps by using tandem affinity purification tags, with a yield of approximately 120 mug from 10 mL hemolymph, and exhibited glycosyltransferase activity and strict substrate specificity. The enzyme was found to be N-glycosylated by the enzymatic cleavage of glycans, while hGnTII expressed in insect cells had not been reported to be glycosylated.
    Title: Heterologous expression, purification and characterization of human β-1,2-N-acetylglucosaminyltransferase II using a silkworm-based Bombyx mori nucleopolyhedrovirus bacmid expression system.
  3. These data suggest that substrate binding by MGAT2 employs both conserved and convergent catalytic subsite modules to provide substrate selectivity and catalysis. More broadly, the MGAT2 active-site architecture demonstrates how glycosyltransferases create complementary modular templates for regiospecific extension of glycan structures in mammalian cells.
    Title: Human N-acetylglucosaminyltransferase II substrate recognition uses a modular architecture that includes a convergent exosite.
  4. UDP-galactose (SLC35A2) and UDP-N-acetylglucosamine (SLC35A3) Transporters Form Glycosylation-related Complexes with Mannoside Acetylglucosaminyltransferases (Mgats).
    Title: UDP-galactose (SLC35A2) and UDP-N-acetylglucosamine (SLC35A3) Transporters Form Glycosylation-related Complexes with Mannoside Acetylglucosaminyltransferases (Mgats).
  5. Golgi N-glycosyltransferases beta-1,2-N-acetylglucosaminyltransferase I, beta-1,2-N-acetylglucosaminyltransferase II, 1,4-galactosyltransferase I, and alpha-2,6-sialyltransferase I form both homo- and heterodimeric enzyme complexes in live cells
    Title: Golgi N-glycosyltransferases form both homo- and heterodimeric enzyme complexes in live cells.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 N-linked oligosaccharides are processed by manosidase I and II in the Golgi complex PubMed
env Specific alterations of the N-linked carbohydrates on HIV-1 gp120 and gp41 by glucosidases and mannosidase inhibitors can enhance mannose-binding lectin (MBL)-mediated neutralization of virus by strengthening the interaction of HIV-1 with MBL PubMed
Envelope surface glycoprotein gp160, precursor env Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus PubMed
Envelope transmembrane glycoprotein gp41 env Mannose-containing, N-linked oligosaccharide side-chains of HIV-1 gp41 are involved in the initial stage of infection by HIV-1; glycosylation inhibitors block virus-cell and cell-cell fusion and release of the virions PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity TAS
Traceable Author Statement
more info
  
enables manganese ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in oligosaccharide biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in protein N-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein N-linked glycosylation via asparagine IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein N-linked glycosylation via asparagine IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in viral protein processing TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
is_active_in Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
located_in Golgi stack IEA
Inferred from Electronic Annotation
more info
  
located_in membrane HDA PubMed 

General protein information

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Preferred Names
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
Names
Beta-1,2-N-acetylglucosaminyltransferase II
N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II
UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II
glcNAc-T II
mannoside acetylglucosaminyltransferase 2
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
NP_002399.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008920.1 RefSeqGene

    Range
    5029..7711
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002408.4 → NP_002399.1  alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase precursor

    See identical proteins and their annotated locations for NP_002399.1

    Status: REVIEWED

    Source sequence(s)
    AK056167, BC006390, BI764270, BQ023756
    Consensus CDS
    CCDS9690.1
    UniProtKB/Swiss-Prot
    B3KPC5, B3KQM0, Q10469
    UniProtKB/TrEMBL
    B4DDK9
    Related
    ENSP00000307423.2, ENST00000305386.4
    Conserved Domains (1) summary
    pfam05060
    Location:92 → 440
    MGAT2; N-acetylglucosaminyltransferase II (MGAT2)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    49620799..49623481
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    43819023..43821705
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001015883.1: Suppressed sequence

    Description
    NM_001015883.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q10469.1 GenPept UniProtKB/Swiss-Prot:Q10469

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