ID   MGAT2_HUMAN             Reviewed;         447 AA.
AC   Q10469;
DT   01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-1996, sequence version 1.
DT   03-NOV-2009, entry version 89.
DE   RecName: Full=Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase;
DE            EC=2.4.1.143;
DE   AltName: Full=Mannoside acetylglucosaminyltransferase 2;
DE   AltName: Full=N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II;
DE   AltName: Full=Beta-1,2-N-acetylglucosaminyltransferase II;
DE   AltName: Full=GlcNAc-T II;
DE            Short=GNT-II;
GN   Name=MGAT2;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND PROTEIN SEQUENCE OF 1-16.
RC   TISSUE=Leukocyte;
RX   MEDLINE=95361854; PubMed=7635144;
RX   DOI=10.1111/j.1432-1033.1995.tb20703.x;
RA   Tan J., D'Agostaro A.F., Bendiak B., Reck F., Sarkar M., Squire J.A.,
RA   Leong P., Schachter H.;
RT   "The human UDP-N-acetylglucosamine: alpha-6-D-mannoside-beta-1,2-N-
RT   acetylglucosaminyltransferase II gene (MGAT2). Cloning of genomic DNA,
RT   localization to chromosome 14q21, expression in insect cells and
RT   purification of the recombinant protein.";
RL   Eur. J. Biochem. 231:317-328(1995).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [3]
RP   VARIANTS CDG2A ARG-262 AND PHE-290.
RX   MEDLINE=96404413; PubMed=8808595;
RA   Tan J., Dunn J., Jaeken J., Schachter H.;
RT   "Mutations in the MGAT2 gene controlling complex N-glycan synthesis
RT   cause carbohydrate-deficient glycoprotein syndrome type II, an
RT   autosomal recessive disease with defective brain development.";
RL   Am. J. Hum. Genet. 59:810-817(1996).
RN   [4]
RP   VARIANT CDG2A ASP-318.
RX   PubMed=11228641; DOI=10.1136/jmg.37.11.875;
RA   Cormier-Daire V., Amiel J., Vuillaumier-Barrot S., Tan J., Durand G.,
RA   Munnich A., Le Merrer M., Seta N.;
RT   "Congenital disorders of glycosylation IIa cause growth retardation,
RT   mental retardation, and facial dysmorphism.";
RL   J. Med. Genet. 37:875-877(2000).
CC   -!- FUNCTION: Catalyzes an essential step in the conversion of oligo-
CC       mannose to complex N-glycans.
CC   -!- CATALYTIC ACTIVITY: UDP-N-acetyl-D-glucosamine + 6-(alpha-D-
CC       mannosyl)-beta-D-mannosyl-R = UDP + 6-(2-(N-acetyl-beta-D-
CC       glucosaminyl)-alpha-D-mannosyl)-beta-D-mannosyl-R.
CC   -!- PATHWAY: Protein modification; protein glycosylation.
CC   -!- SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type
CC       II membrane protein.
CC   -!- DISEASE: Defects in MGAT2 are the cause of congenital disorder of
CC       glycosylation type 2A (CDG2A) [MIM:212066]; also known as
CC       carbohydrate-deficient glycoprotein syndrome type II. CDGs are a
CC       family of severe inherited diseases caused by a defect in protein
CC       N-glycosylation. They are characterized by under-glycosylated
CC       serum proteins. These multisystem disorders present with a wide
CC       variety of clinical features, such as disorders of the nervous
CC       system development, psychomotor retardation, dysmorphic features,
CC       hypotonia, coagulation disorders, and immunodeficiency. The broad
CC       spectrum of features reflects the critical role of N-glycoproteins
CC       during embryonic development, differentiation, and maintenance of
CC       cell functions.
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MGAT2";
CC   -!- WEB RESOURCE: Name=GGDB; Note=GlycoGene database;
CC       URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";
CC   -!- WEB RESOURCE: Name=Functional Glycomics Gateway - GTase;
CC       Note=Alpha-1,6-mannosyl-glycoprotein 2-beta-N-
CC       acetylglucosaminyltransferase;
CC       URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_534";
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DR   EMBL; U15128; AAA86956.1; -; Genomic_DNA.
DR   EMBL; BC006390; AAH06390.1; -; mRNA.
DR   IPI; IPI00025809; -.
DR   PIR; S66256; S66256.
DR   RefSeq; NP_002399.1; -.
DR   UniGene; Hs.93338; -.
DR   STRING; Q10469; -.
DR   CAZy; GT16; Glycosyltransferase Family 16.
DR   PeptideAtlas; Q10469; -.
DR   PRIDE; Q10469; -.
DR   Ensembl; ENST00000305386; ENSP00000307423; ENSG00000168282; Homo sapiens.
DR   GeneID; 4247; -.
DR   KEGG; hsa:4247; -.
DR   UCSC; uc001wwr.1; human.
DR   CTD; 4247; -.
DR   GeneCards; GC14P049157; -.
DR   H-InvDB; HIX0037689; -.
DR   HGNC; HGNC:7045; MGAT2.
DR   MIM; 212066; phenotype.
DR   MIM; 602616; gene.
DR   Orphanet; 137; CDG syndrome.
DR   Orphanet; 79329; CDG syndrome, type IIa.
DR   PharmGKB; PA30780; -.
DR   HOGENOM; Q10469; -.
DR   HOVERGEN; Q10469; -.
DR   OMA; KVDVKTW; -.
DR   BRENDA; 2.4.1.143; 247.
DR   NextBio; 16741; -.
DR   ArrayExpress; Q10469; -.
DR   Bgee; Q10469; -.
DR   CleanEx; HS_MGAT2; -.
DR   Genevestigator; Q10469; -.
DR   GermOnline; ENSG00000168282; Homo sapiens.
DR   GO; GO:0005795; C:Golgi stack; IEA:InterPro.
DR   GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0005624; C:membrane fraction; TAS:ProtInc.
DR   GO; GO:0008455; F:alpha-1,6-mannosylglycoprotein 2-beta-N-ace...; TAS:ProtInc.
DR   GO; GO:0009312; P:oligosaccharide biosynthetic process; IEA:InterPro.
DR   InterPro; IPR007754; GlcNAc_II.
DR   PANTHER; PTHR12871; MGAT2; 1.
DR   Pfam; PF05060; MGAT2; 1.
PE   1: Evidence at protein level;
KW   Complete proteome; Congenital disorder of glycosylation;
KW   Direct protein sequencing; Disease mutation; Glycoprotein;
KW   Glycosyltransferase; Golgi apparatus; Membrane; Signal-anchor;
KW   Transferase; Transmembrane.
FT   CHAIN         1    447       Alpha-1,6-mannosyl-glycoprotein 2-beta-N-
FT                                acetylglucosaminyltransferase.
FT                                /FTId=PRO_0000080517.
FT   TOPO_DOM      1      9       Cytoplasmic (Potential).
FT   TRANSMEM     10     29       Signal-anchor for type II membrane
FT                                protein (Potential).
FT   TOPO_DOM     30    447       Lumenal (Potential).
FT   CARBOHYD     69     69       N-linked (GlcNAc...) (Potential).
FT   CARBOHYD     86     86       N-linked (GlcNAc...) (Potential).
FT   VARIANT     262    262       H -> R (in CDG2A).
FT                                /FTId=VAR_003415.
FT   VARIANT     290    290       S -> F (in CDG2A).
FT                                /FTId=VAR_003416.
FT   VARIANT     318    318       N -> D (in CDG2A).
FT                                /FTId=VAR_012343.
SQ   SEQUENCE   447 AA;  51550 MW;  533B76D08BD8A572 CRC64;
     MRFRIYKRKV LILTLVVAAC GFVLWSSNGR QRKNEALAPP LLDAEPARGA GGRGGDHPSV
     AVGIRRVSNV SAASLVPAVP QPEADNLTLR YRSLVYQLNF DQTLRNVDKA GTWAPRELVL
     VVQVHNRPEY LRLLLDSLRK AQGIDNVLVI FSHDFWSTEI NQLIAGVNFC PVLQVFFPFS
     IQLYPNEFPG SDPRDCPRDL PKNAALKLGC INAEYPDSFG HYREAKFSQT KHHWWWKLHF
     VWERVKILRD YAGLILFLEE DHYLAPDFYH VFKKMWKLKQ QECPECDVLS LGTYSASRSF
     YGMADKVDVK TWKSTEHNMG LALTRNAYQK LIECTDTFCT YDDYNWDWTL QYLTVSCLPK
     FWKVLVPQIP RIFHAGDCGM HHKKTCRPST QSAQIESLLN NNKQYMFPET LTISEKFTVV
     AISPPRKNGG WGDIRDHELC KSYRRLQ
//