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Q10469

- MGAT2_HUMAN

UniProt

Q10469 - MGAT2_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ10469.
CleanExiHS_MGAT2.
ExpressionAtlasiQ10469. baseline and differential.
GenevestigatoriQ10469.

Organism-specific databases

HPAiHPA043721.

Interactioni

Protein-protein interaction databases

BioGridi110403. 2 interactions.
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.
GeneTreeiENSGT00390000007341.
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

« Hide

        10         20         30         40         50
MRFRIYKRKV LILTLVVAAC GFVLWSSNGR QRKNEALAPP LLDAEPARGA
60 70 80 90 100
GGRGGDHPSV AVGIRRVSNV SAASLVPAVP QPEADNLTLR YRSLVYQLNF
110 120 130 140 150
DQTLRNVDKA GTWAPRELVL VVQVHNRPEY LRLLLDSLRK AQGIDNVLVI
160 170 180 190 200
FSHDFWSTEI NQLIAGVNFC PVLQVFFPFS IQLYPNEFPG SDPRDCPRDL
210 220 230 240 250
PKNAALKLGC INAEYPDSFG HYREAKFSQT KHHWWWKLHF VWERVKILRD
260 270 280 290 300
YAGLILFLEE DHYLAPDFYH VFKKMWKLKQ QECPECDVLS LGTYSASRSF
310 320 330 340 350
YGMADKVDVK TWKSTEHNMG LALTRNAYQK LIECTDTFCT YDDYNWDWTL
360 370 380 390 400
QYLTVSCLPK FWKVLVPQIP RIFHAGDCGM HHKKTCRPST QSAQIESLLN
410 420 430 440
NNKQYMFPET LTISEKFTVV AISPPRKNGG WGDIRDHELC KSYRRLQ
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. 2 interactions.
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.
GeneTreei ENSGT00390000007341.
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

Bgeei Q10469.
CleanExi HS_MGAT2.
ExpressionAtlasi Q10469. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 138 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