B3GAT2
beta-1,3-glucuronyltransferase 2
Summary
The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs560152490 | 6:71,571,395 | G/A | — | uncertain significance |
| rs1771736755 | 6:71,571,399 | C/G | — | uncertain significance |
| rs1286750096 | 6:71,571,401 | T/G | — | uncertain significance |
| rs538444071 | 6:71,603,929 | C/A | — | uncertain significance |
| rs2482069226 | 6:71,603,968 | G/A | — | uncertain significance |
| rs368880277 | 6:71,603,975 | T/A | — | uncertain significance |
| rs2460691 | 6:71,613,855 | G/C | intron variant | — |
| rs181810108 | 6:71,628,528 | A/C | intron variant | — |
| rs6922893 | 6:71,660,111 | A/T | — | — |
| rs778874580 | 6:71,665,601 | G/T | — | uncertain significance |
| rs746595710 | 6:71,665,630 | C/T | — | uncertain significance |
| rs2482216956 | 6:71,665,678 | C/T | — | uncertain significance |
| rs2150055099 | 6:71,665,682 | G/C | — | uncertain significance |
| rs764212379 | 6:71,665,793 | T/G | — | uncertain significance |
| rs372158787 | 6:71,665,858 | G/T | — | uncertain significance |
| rs748304217 | 6:71,665,948 | C/G | — | uncertain significance |
| rs760672632 | 6:71,665,965 | C/A | — | uncertain significance |
| rs2482218406 | 6:71,665,966 | C/T | — | uncertain significance |
| rs756301520 | 6:71,665,996 | C/A | — | uncertain significance |
| rs1765657478 | 6:71,666,027 | G/C | — | uncertain significance |
| rs776603346 | 6:71,666,038 | G/A | — | uncertain significance |
| rs766587551 | 6:71,666,053 | G/A | — | uncertain significance |
| rs1765658948 | 6:71,666,102 | T/C | — | uncertain significance |
| rs906078505 | 6:71,666,122 | G/T | — | uncertain significance |
| rs1279218764 | 6:71,666,127 | C/A | — | uncertain significance |
| rs10945275 | 6:71,667,847 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.