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Q10469

- MGAT2_HUMAN

UniProt

Q10469 - MGAT2_HUMAN

Protein

Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

Gene

MGAT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 1 (01 Oct 1996)
      Previous versions | rss
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    Functioni

    Catalyzes an essential step in the conversion of oligo-mannose to complex N-glycans.

    Catalytic activityi

    UDP-N-acetyl-D-glucosamine + 6-(alpha-D-mannosyl)-beta-D-mannosyl-R = UDP + 6-(2-(N-acetyl-beta-D-glucosaminyl)-alpha-D-mannosyl)-beta-D-mannosyl-R.

    Pathwayi

    GO - Molecular functioni

    1. alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity Source: ProtInc
    2. carbohydrate binding Source: Ensembl

    GO - Biological processi

    1. cellular protein metabolic process Source: Reactome
    2. oligosaccharide biosynthetic process Source: InterPro
    3. oligosaccharide metabolic process Source: ProtInc
    4. post-translational protein modification Source: Reactome
    5. protein N-linked glycosylation Source: ProtInc
    6. protein N-linked glycosylation via asparagine Source: Reactome

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    BioCyciMetaCyc:HS09725-MONOMER.
    ReactomeiREACT_25302. Reactions specific to the complex N-glycan synthesis pathway.
    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT16. Glycosyltransferase Family 16.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (EC:2.4.1.143)
    Alternative name(s):
    Beta-1,2-N-acetylglucosaminyltransferase II
    GlcNAc-T II
    Short name:
    GNT-II
    Mannoside acetylglucosaminyltransferase 2
    N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II
    Gene namesi
    Name:MGAT2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:7045. MGAT2.

    Subcellular locationi

    GO - Cellular componenti

    1. Golgi membrane Source: Reactome
    2. Golgi stack Source: InterPro
    3. integral component of membrane Source: UniProtKB-KW
    4. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Congenital disorder of glycosylation 2A (CDG2A) [MIM:212066]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti262 – 2621H → R in CDG2A. 1 Publication
    VAR_003415
    Natural varianti290 – 2901S → F in CDG2A. 1 Publication
    VAR_003416
    Natural varianti318 – 3181N → D in CDG2A. 1 Publication
    VAR_012343

    Keywords - Diseasei

    Congenital disorder of glycosylation, Disease mutation

    Organism-specific databases

    MIMi212066. phenotype.
    Orphaneti79329. MGAT2-CDG.
    PharmGKBiPA30780.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 447447Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferasePRO_0000080517Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi69 – 691N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi86 – 861N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ10469.
    PaxDbiQ10469.
    PeptideAtlasiQ10469.
    PRIDEiQ10469.

    PTM databases

    PhosphoSiteiQ10469.

    Expressioni

    Gene expression databases

    ArrayExpressiQ10469.
    BgeeiQ10469.
    CleanExiHS_MGAT2.
    GenevestigatoriQ10469.

    Organism-specific databases

    HPAiHPA043721.

    Interactioni

    Protein-protein interaction databases

    BioGridi110403. 1 interaction.
    STRINGi9606.ENSP00000307423.

    Structurei

    3D structure databases

    ProteinModelPortaliQ10469.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 99CytoplasmicSequence Analysis
    Topological domaini30 – 447418LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei10 – 2920Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG239633.
    HOVERGENiHBG052467.
    InParanoidiQ10469.
    KOiK00736.
    OMAiHAGDCGM.
    OrthoDBiEOG7TF79W.
    PhylomeDBiQ10469.
    TreeFamiTF314772.

    Family and domain databases

    Gene3Di3.90.550.10. 2 hits.
    InterProiIPR007754. GlcNAc_II.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PANTHERiPTHR12871. PTHR12871. 1 hit.
    PfamiPF05060. MGAT2. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 2 hits.

    Sequencei

    Sequence statusi: Complete.

    Q10469-1 [UniParc]FASTAAdd to Basket

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    MRFRIYKRKV LILTLVVAAC GFVLWSSNGR QRKNEALAPP LLDAEPARGA    50
    GGRGGDHPSV AVGIRRVSNV SAASLVPAVP QPEADNLTLR YRSLVYQLNF 100
    DQTLRNVDKA GTWAPRELVL VVQVHNRPEY LRLLLDSLRK AQGIDNVLVI 150
    FSHDFWSTEI NQLIAGVNFC PVLQVFFPFS IQLYPNEFPG SDPRDCPRDL 200
    PKNAALKLGC INAEYPDSFG HYREAKFSQT KHHWWWKLHF VWERVKILRD 250
    YAGLILFLEE DHYLAPDFYH VFKKMWKLKQ QECPECDVLS LGTYSASRSF 300
    YGMADKVDVK TWKSTEHNMG LALTRNAYQK LIECTDTFCT YDDYNWDWTL 350
    QYLTVSCLPK FWKVLVPQIP RIFHAGDCGM HHKKTCRPST QSAQIESLLN 400
    NNKQYMFPET LTISEKFTVV AISPPRKNGG WGDIRDHELC KSYRRLQ 447
    Length:447
    Mass (Da):51,550
    Last modified:October 1, 1996 - v1
    Checksum:i533B76D08BD8A572
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti299 – 2991S → R in BAG52082. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti262 – 2621H → R in CDG2A. 1 Publication
    VAR_003415
    Natural varianti290 – 2901S → F in CDG2A. 1 Publication
    VAR_003416
    Natural varianti318 – 3181N → D in CDG2A. 1 Publication
    VAR_012343

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U15128 Genomic DNA. Translation: AAA86956.1.
    AK056167 mRNA. Translation: BAG51637.1.
    AK075199 mRNA. Translation: BAG52082.1.
    CH471078 Genomic DNA. Translation: EAW65758.1.
    BC006390 mRNA. Translation: AAH06390.1.
    CCDSiCCDS9690.1.
    PIRiS66256.
    RefSeqiNP_002399.1. NM_002408.3.
    UniGeneiHs.93338.

    Genome annotation databases

    EnsembliENST00000305386; ENSP00000307423; ENSG00000168282.
    GeneIDi4247.
    KEGGihsa:4247.
    UCSCiuc001wwr.3. human.

    Polymorphism databases

    DMDMi1708004.

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Functional Glycomics Gateway - GTase

    Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U15128 Genomic DNA. Translation: AAA86956.1 .
    AK056167 mRNA. Translation: BAG51637.1 .
    AK075199 mRNA. Translation: BAG52082.1 .
    CH471078 Genomic DNA. Translation: EAW65758.1 .
    BC006390 mRNA. Translation: AAH06390.1 .
    CCDSi CCDS9690.1.
    PIRi S66256.
    RefSeqi NP_002399.1. NM_002408.3.
    UniGenei Hs.93338.

    3D structure databases

    ProteinModelPortali Q10469.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110403. 1 interaction.
    STRINGi 9606.ENSP00000307423.

    Chemistry

    ChEMBLi CHEMBL2321630.

    Protein family/group databases

    CAZyi GT16. Glycosyltransferase Family 16.

    PTM databases

    PhosphoSitei Q10469.

    Polymorphism databases

    DMDMi 1708004.

    Proteomic databases

    MaxQBi Q10469.
    PaxDbi Q10469.
    PeptideAtlasi Q10469.
    PRIDEi Q10469.

    Protocols and materials databases

    DNASUi 4247.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000305386 ; ENSP00000307423 ; ENSG00000168282 .
    GeneIDi 4247.
    KEGGi hsa:4247.
    UCSCi uc001wwr.3. human.

    Organism-specific databases

    CTDi 4247.
    GeneCardsi GC14P050087.
    GeneReviewsi MGAT2.
    H-InvDB HIX0211283.
    HGNCi HGNC:7045. MGAT2.
    HPAi HPA043721.
    MIMi 212066. phenotype.
    602616. gene.
    neXtProti NX_Q10469.
    Orphaneti 79329. MGAT2-CDG.
    PharmGKBi PA30780.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG239633.
    HOVERGENi HBG052467.
    InParanoidi Q10469.
    KOi K00736.
    OMAi HAGDCGM.
    OrthoDBi EOG7TF79W.
    PhylomeDBi Q10469.
    TreeFami TF314772.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    BioCyci MetaCyc:HS09725-MONOMER.
    Reactomei REACT_25302. Reactions specific to the complex N-glycan synthesis pathway.

    Miscellaneous databases

    GeneWikii MGAT2.
    GenomeRNAii 4247.
    NextBioi 16741.
    PROi Q10469.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q10469.
    Bgeei Q10469.
    CleanExi HS_MGAT2.
    Genevestigatori Q10469.

    Family and domain databases

    Gene3Di 3.90.550.10. 2 hits.
    InterProi IPR007754. GlcNAc_II.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    PANTHERi PTHR12871. PTHR12871. 1 hit.
    Pfami PF05060. MGAT2. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53448. SSF53448. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. "The human UDP-N-acetylglucosamine: alpha-6-D-mannoside-beta-1,2-N-acetylglucosaminyltransferase II gene (MGAT2). Cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein."
      Tan J., D'Agostaro A.F., Bendiak B., Reck F., Sarkar M., Squire J.A., Leong P., Schachter H.
      Eur. J. Biochem. 231:317-328(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], PROTEIN SEQUENCE OF 1-16.
      Tissue: Leukocyte.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Placenta.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    5. "Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development."
      Tan J., Dunn J., Jaeken J., Schachter H.
      Am. J. Hum. Genet. 59:810-817(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CDG2A ARG-262 AND PHE-290.
    6. "Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism."
      Cormier-Daire V., Amiel J., Vuillaumier-Barrot S., Tan J., Durand G., Munnich A., Le Merrer M., Seta N.
      J. Med. Genet. 37:875-877(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CDG2A ASP-318.

    Entry informationi

    Entry nameiMGAT2_HUMAN
    AccessioniPrimary (citable) accession number: Q10469
    Secondary accession number(s): B3KPC5, B3KQM0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: October 1, 1996
    Last modified: October 1, 2014
    This is version 137 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways

    External Data

    Dasty 3