FUT2 Gene (Fucosyltransferase 2)
Key regulator of ABO histo-blood group antigen expression and secretor status
Gene Information Card
| Symbol | FUT2 |
|---|---|
| Full Name | Fucosyltransferase 2 (H blood group) |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 2524 ncbi.nlm.nih.gov/gene/2524 |
| Ensembl ID | ENSG00000176920 |
| UniProt ID | Q10981 |
| OMIM ID | 182100 |
| HGNC ID | 4014 |
| Aliases | Se, SEC2, H, FUTII, Galactoside 2-alpha-L-fucosyltransferase 2 |
Description
The FUT2 gene encodes the enzyme fucosyltransferase 2, which catalyzes the addition of L-fucose to type 1 and type 2 oligosaccharide chains, producing H antigen (CD173) on mucosal epithelial cells and in secretions. This enzyme determines the secretor status of individuals: secretors (Se) express ABO antigens in body fluids, while non-secretors (se) do not. FUT2 is critical for the formation of Lewis b (Le^b) antigen and influences susceptibility to various infections and inflammatory diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Norovirus infection susceptibility | Loss-of-function FUT2 variants (e.g., G428A, A385T) abolish H antigen expression on gut mucosa, preventing norovirus attachment and infection | ClinVar, PMID: 14608356 |
| Crohn's disease | Non-secretor status (FUT2 null alleles) is associated with altered gut microbiota composition and increased risk of Crohn's disease | OMIM, PMID: 21102463 |
| Helicobacter pylori infection | Secretor status influences Lewis b antigen expression, which serves as an adhesion receptor for H. pylori; non-secretors have reduced infection risk | PMID: 10577926 |
| Urinary tract infection (UTI) | Non-secretor status is associated with increased risk of recurrent UTI due to altered glycosylation of uroepithelial cells | PMID: 11325980 |
| Type 1 diabetes | FUT2 polymorphisms (rs601338) are associated with altered gut microbiome and risk of type 1 diabetes | PMID: 21841784 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary gland | 68.2 | High |
| Stomach | 55.1 | High |
| Colon | 42.3 | High |
| Small intestine | 38.7 | High |
| Kidney | 12.4 | Medium |
| Lung | 8.9 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colon) | 62.1 | High expression |
| HT-29 (colon) | 55.3 | High expression |
| A549 (lung) | 4.5 | Low expression |
| HepG2 (liver) | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs601338 (G428A) | Nonsense (Trp143Ter) | ~50% in Europeans, ~20% in Asians | Loss of function; non-secretor phenotype |
| rs1047781 (A385T) | Missense (Ile129Phe) | ~30% in East Asians | Loss of function; non-secretor phenotype |
| rs200157007 (C357T) | Missense (Ser119Leu) | Rare | Loss of function; non-secretor phenotype |
| rs492602 (G>A) | Synonymous | Common | Associated with altered FUT2 expression levels |
Mutation functional classification
Loss of Function (LOF)
Common nonsense and missense variants (e.g., G428A, A385T) result in complete loss of enzyme activity, leading to the non-secretor phenotype (absence of ABH antigens in secretions).
Gain of Function (GOF)
No known gain-of-function mutations reported in FUT2.
Dominant Negative (DN)
No dominant-negative effects described; FUT2 mutations are recessive, requiring biallelic loss for non-secretor phenotype.
View complete mutation data：
Gene Ontology (GO)
| • Fucosyltransferase activity (GO:0008417) | • Alpha-(1,2)-fucosyltransferase activity (GO:0008107) |
| • Golgi membrane (GO:0000139) | • Protein glycosylation (GO:0006486) |
| • Carbohydrate metabolic process (GO:0005975) | • ABO blood group antigen biosynthesis (GO:0016262) |
Pathways
• Blood group antigen biosynthesis (Reactome: R-HSA-9033802)
• Fucosylation of glycoproteins (Reactome: R-HSA-9033801)
• Lewis antigen biosynthesis (KEGG: map00601)
Protein Summary
Fucosyltransferase 2 (FUT2) is a 343-amino acid type II transmembrane protein localized to the Golgi apparatus. It catalyzes the transfer of fucose from GDP-fucose to the galactose residue of type 1 and type 2 oligosaccharide chains, generating the H antigen (Fucα1-2Galβ1-3/4GlcNAc). This enzyme is essential for the synthesis of Lewis b and Lewis Y antigens and determines the secretor status of individuals. The protein is highly expressed in salivary glands, gastrointestinal mucosa, and other secretory epithelia. Loss-of-function mutations in FUT2 are common and result in the non-secretor phenotype, which has significant implications for susceptibility to infections (e.g., norovirus, H. pylori) and autoimmune diseases (e.g., Crohn's disease, type 1 diabetes).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FUT2 Knockout HEK293 Cell Line | EDJ-KQ4641 | Human | 2524 | Details Get a Quote |
| POFUT2 Knockout HEK293 Cell Line | EDJ-KQ7938 | Human | 23275 | Details Get a Quote |
| FUT2 Knockout HCT 116 Cell Line | EDJ-KQ27327 | Human | 2524 | Details Get a Quote |
| POFUT2 Knockout HeLa Cell Line | EDJ-KQ32269 | Human | 23275 | Details Get a Quote |
| POFUT2 Knockout A-549 Cell Line | EDJ-KQ33598 | Human | 23275 | Details Get a Quote |
| POFUT2 Knockout HCT 116 Cell Line | EDJ-KQ33599 | Human | 23275 | Details Get a Quote |
| FUT2 Knockout HeLa Cell Line | EDJ-KQ53276 | Human | 2524 | Details Get a Quote |
| FUT2 Knockout A-549 Cell Line | EDJ-KQ61758 | Human | 2524 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
