ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.
ALFRED detailed record information

Locus Information

NameALFRED UIDLocus SymbolChromosomeBand Position
Fucosyltransferase 2 (secretor status included)LO000394QFUT21919q13.3
Synonyms: sej ; SE ; Se2 ; SEC2 ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   OMIM description   GenBank sequence   PharmGKB Gene Information   Genopedia (HuGE Navigator)   
References: See References
Locus Description: FUT2 (Secretor gene) encodes a(1,2) fucosyltransferase (Se enzyme) that regulates expression of ABH antigens in secretory glands and secretory fluids produced by epithelial cells in the salivary glands, gastointestinal tract, and elsewhere (Kelly et al., 1995). Individuals having mutations resulting in non-secretion and who do not express the H type-1 oligosaccharide ligand required for Norwalk virus binding show resistance to Norwalk infection (PMID: 12692541).

Kudo et al. (1996) discussed the possibility of a selective advantage accounting for the development of different inactivating mutations of the FUT2(SEC2) gene in different ethnic groups.
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:
Site Name
(Navigates to ALFRED
description)		dbSNP rs#
(Navigates to dbSNP
reference page)		Chr-PositionStatus# Populations
typed
A40Grs3826838   49183284Now associated with SEC153
rs10408409rs10408409   4919708650
rs16982241rs16982241   4920285950
Asn119Asnrs281377   4920660370
Glu125Glurs1800026   492066212
rs1800022rs1800022   492066252
Ile129Phers1047781   4920663122
Trp143Termrs601338   4920667418
His160Hisrs1800027   492067262
Asp161Asnrs1800025   492067272
Arg191Termrs1800028   4920681722
Arg210Termrs1800029   4920687416
Arg220Termrs144566043   492069043
rs602662rs602662   4920698551
788delrs1799761   492070242
Trp283termrs1800030   4920709522
rs485186rs485186   4920720651
rs504963rs504963   4920886551
rs648644rs648644   4921038350
C302T   15
Val229Met   13
FUT2 fusion gene   18
Se secretor status   1
688delGTC   15

References:
- Kelly RJ, Rouquier S, Giorgi D, Lennon GG, Lowe JB. "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) Online citation.

- 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) Online citation.

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© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan