FUT3
fucosyltransferase 3 (Lewis blood group)
Summary
The Lewis histo-blood group system comprises a set of fucosylated glycosphingolipids that are synthesized by exocrine epithelial cells and circulate in body fluids. The glycosphingolipids function in embryogenesis, tissue differentiation, tumor metastasis, inflammation, and bacterial adhesion. They are secondarily absorbed to red blood cells giving rise to their Lewis phenotype. This gene is a member of the fucosyltransferase family, which catalyzes the addition of fucose to precursor polysaccharides in the last step of Lewis antigen biosynthesis. It encodes an enzyme with alpha(1,3)-fucosyltransferase and alpha(1,4)-fucosyltransferase activities. Mutations in this gene are responsible for the majority of Lewis antigen-negative phenotypes. Differences in the expression of this gene are associated with host susceptibility to viral infection. [provided by RefSeq, Aug 2020]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs192187311 | 19:5,843,796 | G/A | — | uncertain significance |
| rs199931170 | 19:5,843,822 | T/C | — | likely benign |
| rs61737303 | 19:5,843,876 | C/T | — | benign |
| rs373456531 | 19:5,843,907 | C/T | — | uncertain significance |
| rs202018501 | 19:5,843,940 | C/T | — | likely benign |
| rs200332425 | 19:5,843,941 | G/C | — | uncertain significance |
| rs777657616 | 19:5,843,958 | C/T | — | uncertain significance |
| rs201685274 | 19:5,844,025 | G/A | — | uncertain significance |
| rs762213265 | 19:5,844,079 | C/T | — | uncertain significance |
| rs751688026 | 19:5,844,093 | G/A | — | uncertain significance |
| rs750246535 | 19:5,844,110 | G/A | — | likely benign |
| rs565590532 | 19:5,844,119 | G/A | — | benign |
| rs377154201 | 19:5,844,141 | G/A | — | uncertain significance |
| rs368907541 | 19:5,844,172 | T/C | — | uncertain significance |
| rs1176415830 | 19:5,844,181 | G/A | — | uncertain significance |
| rs149661823 | 19:5,844,229 | G/A | — | uncertain significance |
| rs368383393 | 19:5,844,235 | T/A | — | uncertain significance |
| rs28362465 | 19:5,844,239 | T/C | — | likely benign |
| rs1421814610 | 19:5,844,281 | G/A | — | likely benign |
| rs758845569 | 19:5,844,333 | T/C | — | uncertain significance |
| rs3745635 | 19:5,844,343 | C/T | missense variant | association |
| rs28362463 | 19:5,844,367 | C/G | missense variant | — |
| rs407645 | 19:5,844,420 | T/C | — | uncertain significance |
| rs149611774 | 19:5,844,430 | G/T | — | uncertain significance |
| rs561133035 | 19:5,844,448 | A/G | — | uncertain significance |
| rs200448479 | 19:5,844,466 | C/G | — | uncertain significance |
| rs774762978 | 19:5,844,529 | C/T | — | uncertain significance |
| rs375070581 | 19:5,844,541 | C/T | — | uncertain significance |
| rs772791626 | 19:5,844,579 | C/T | — | uncertain significance |
| rs770311088 | 19:5,844,583 | C/T | — | uncertain significance |
| rs2512810001 | 19:5,844,591 | C/T | — | uncertain significance |
| rs757530473 | 19:5,844,600 | A/G | — | uncertain significance |
| rs149713601 | 19:5,844,613 | G/A | — | uncertain significance |
| rs2512810222 | 19:5,844,618 | A/G | — | uncertain significance |
| rs2057303317 | 19:5,844,685 | T/G | — | uncertain significance |
| rs2512811034 | 19:5,844,706 | T/A | — | uncertain significance |
| rs370008347 | 19:5,844,726 | G/A | — | uncertain significance |
| rs200441527 | 19:5,844,733 | C/T | — | uncertain significance |
| rs28362459 | 19:5,844,792 | A/C | missense variant | association |
| rs146199130 | 19:5,844,796 | C/T | — | likely benign |
| rs145362171 | 19:5,844,804 | C/G | missense variant | — |
| rs750231414 | 19:5,844,819 | C/A | — | uncertain significance |
| rs28362458 | 19:5,844,838 | C/T | missense variant | — |
| rs771264786 | 19:5,844,840 | A/T | — | uncertain significance |
| rs142212576 | 19:5,845,364 | C/T | upstream gene variant | — |
| rs4807052 | 19:5,846,229 | C/T | upstream gene variant | — |
| rs2306969 | 19:5,851,801 | A/T | — | — |
| rs183343466 | 19:5,853,558 | G/C | upstream gene variant | — |
| rs180852977 | 19:5,855,743 | G/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.