B4GALT2
beta-1,4-galactosyltransferase 2
Summary
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is affected by alpha-lactalbumin but it is not expressed in lactating mammary tissue. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2529139060 | 1:44,446,783 | C/G | — | uncertain significance |
| rs748611876 | 1:44,446,813 | G/T | — | uncertain significance |
| rs2529139354 | 1:44,446,881 | C/A | — | uncertain significance |
| rs757515250 | 1:44,446,914 | G/A | — | uncertain significance |
| rs139961353 | 1:44,446,932 | G/A | — | uncertain significance |
| rs769533543 | 1:44,446,962 | C/T | — | uncertain significance |
| rs762532434 | 1:44,446,963 | G/A | — | uncertain significance |
| rs1156639197 | 1:44,446,975 | G/A | — | uncertain significance |
| rs758687714 | 1:44,447,023 | G/A | — | uncertain significance |
| rs199512234 | 1:44,447,037 | C/T | — | uncertain significance |
| rs145753168 | 1:44,447,038 | G/A | — | uncertain significance |
| rs769733983 | 1:44,447,043 | A/G | — | uncertain significance |
| rs2353008 | 1:44,447,056 | C/T | — | uncertain significance |
| rs148339623 | 1:44,447,064 | G/A | — | uncertain significance |
| rs367580012 | 1:44,447,094 | G/T | — | uncertain significance |
| rs368130720 | 1:44,447,118 | C/T | — | uncertain significance |
| rs749160922 | 1:44,447,361 | T/C | — | uncertain significance |
| rs1056586100 | 1:44,447,466 | C/T | — | uncertain significance |
| rs373711344 | 1:44,447,549 | A/G | — | uncertain significance |
| rs753886330 | 1:44,447,558 | C/T | — | uncertain significance |
| rs148494875 | 1:44,447,570 | C/T | — | uncertain significance |
| rs749541889 | 1:44,450,672 | C/T | — | uncertain significance |
| rs771070208 | 1:44,450,673 | G/A | — | uncertain significance |
| rs762695769 | 1:44,451,023 | C/T | — | uncertain significance |
| rs1013133350 | 1:44,456,029 | G/A | — | uncertain significance |
| rs2085716069 | 1:44,456,058 | C/G | — | uncertain significance |
| rs2529165159 | 1:44,456,074 | T/C | — | uncertain significance |
| rs757052345 | 1:44,456,101 | C/T | — | uncertain significance |
| rs545845176 | 1:44,457,047 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.