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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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