[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM LONG).
DOI=10.1074/jbc.270.9.4640; PubMed=7876235 [NCBI, ExPASy, EBI, Israel, Japan]
Kelly R.J.,
Rouquier S.,
Giorgi D.,
Lennon G.G.,
Lowe J.B.;
"Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype.";
J. Biol. Chem. 270:4640-4649(1995).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM SHORT), AND VARIANT PHE-140.
DOI=10.1074/jbc.271.16.9830; PubMed=8621666 [NCBI, ExPASy, EBI, Israel, Japan]
Kudo T.,
Iwasaki H.,
Nishihara S.,
Shinya N.,
Ando T.,
Narimatsu I.,
Narimatsu H.;
"Molecular genetic analysis of the human Lewis histo-blood group system. II. Secretor gene inactivation by a novel single missense mutation A385T in Japanese nonsecretor individuals.";
J. Biol. Chem. 271:9830-9837(1996).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), AND VARIANT PHE-140.
DOI=10.1111/j.1432-1033.1997.t01-1-00750.x; PubMed=9219535 [NCBI, ExPASy, EBI, Israel, Japan]
Koda Y.,
Soejima M.,
Wang B.,
Kimura H.;
"Structure and expression of the gene encoding secretor-type galactoside 2-alpha-L-fucosyltransferase (FUT2).";
Eur. J. Biochem. 246:750-755(1997).
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[4]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS VAL-25; CYS-138; ASN-172 AND SER-258.
SeattleSNPs variation discovery resource;
Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases.
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG), AND VARIANT PHE-140.
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[6]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 70-343.
PubMed=8755920 [NCBI, ExPASy, EBI, Israel, Japan]
Koda Y.,
Soejima M.,
Liu Y.,
Kimura H.;
"Molecular basis for secretor type alpha(1,2)-fucosyltransferase gene deficiency in a Japanese population: a fusion gene generated by unequal crossover responsible for the enzyme deficiency.";
Am. J. Hum. Genet. 59:343-350(1996).
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[7]
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VARIANTS VAL-25; CYS-138 AND ASN-172.
DOI=10.1007/s004390050808; PubMed=9760207 [NCBI, ExPASy, EBI, Israel, Japan]
Liu Y.,
Koda Y.,
Soejima M.,
Pang H.,
Schlaphoff T.,
du Toit E.D.,
Kimura H.;
"Extensive polymorphism of the FUT2 gene in an African (Xhosa) population of South Africa.";
Hum. Genet. 103:204-210(1998).
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[8]
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INVOLVEMENT IN B12QTL1.
DOI=10.1038/ng.210; PubMed=18776911 [NCBI, ExPASy, EBI, Israel, Japan]
Hazra A.,
Kraft P.,
Selhub J.,
Giovannucci E.L.,
Thomas G.,
Hoover R.N.,
Chanock S.J.,
Hunter D.J.;
"Common variants of FUT2 are associated with plasma vitamin B12 levels.";
Nat. Genet. 40:1160-1162(2008).
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- FUNCTION: Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Galbeta-) called the H antigen which is an essential substrate for the final step in the soluble A and B antigen synthesis pathway. H and Se enzymes fucosylate the same acceptor substrates but exhibit different Km values.
- CATALYTIC ACTIVITY: GDP-beta-L-fucose + beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide = GDP + alpha-L-fucosyl-(1->2)-beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide.
- PATHWAY: Protein modification; protein glycosylation.
- SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Membrane-bound form in trans cisternae of Golgi.
- ALTERNATIVE PRODUCTS:
2 named isoforms [FASTA] produced by alternative initiation.
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| Name | Short |
| Isoform ID | Q10981-2 |
| Features which should be applied to build the isoform sequence: VSP_018736. |
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- TISSUE SPECIFICITY: Small intestine, colon and lung.
- POLYMORPHISM: Three alleles have been identified in Japanese: Se1, Se2, and Sej.
- DISEASE: Genetic variation in FUT2 is associated with vitamin B12 plasma level quantitative trait locus type 1 (B12QTL1) [MIM:612542]. The plasma level of vitamin B12 is a modifiable quantitative trait associated with many diseases. Vitamin B12 found in meat and milk products is composed of corrin and cobalt rings and is necessary for the formation of red blood cells, DNA synthesis during cell division, and maintenance of the myelin nerve sheath, among other functions. Deficiency in vitamin B12, clinically associated with pernicious anemia, cardiovascular disease, cancer, and neurodegenerative disorders, is often related to poor intestinal B12 absorption rather than direct dietary deficiency.
- MISCELLANEOUS: There are two genes (FUT1 and FUT2) which encode galactoside 2-L-fucosyltransferase. They are expressed in a tissue-specific manner with expression restricted to cells of mesodermal or endodermal origin respectively.
- SIMILARITY: Belongs to the glycosyltransferase 11 family.
- WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=hh";.
- WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=FUT2";.
- WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/fut2/";.
- WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Fucosyltransferase 2; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_599";.
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