MGAT5
alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase
Summary
The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the activity of this enzyme has been correlated with the progression of invasive malignancies. [provided by RefSeq, Oct 2011]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2277882 | 2:134,883,353 | C/T | — | — |
| rs151088139 | 2:134,893,133 | C/T | intron variant | — |
| rs1257169 | 2:134,963,862 | C/T | — | — |
| rs184720977 | 2:134,971,747 | T/C | intron variant | — |
| rs111395997 | 2:135,000,907 | C/T | intron variant | — |
| rs2593704 | 2:135,005,277 | G/A | — | — |
| rs1397059108 | 2:135,011,981 | C/T | — | uncertain significance |
| rs2468529941 | 2:135,012,068 | T/C | — | uncertain significance |
| rs141403771 | 2:135,012,114 | G/A | — | uncertain significance |
| rs2442046 | 2:135,014,078 | G/A | — | — |
| rs2460383 | 2:135,014,126 | T/C | intron variant | — |
| rs1257219 | 2:135,014,890 | A/T | — | — |
| rs1299887673 | 2:135,028,071 | C/T | — | uncertain significance |
| rs758183170 | 2:135,028,076 | A/G | — | uncertain significance |
| rs534258215 | 2:135,028,082 | G/A | — | uncertain significance |
| rs146062931 | 2:135,040,366 | A/C | regulatory region variant | — |
| rs12989456 | 2:135,042,375 | T/C | intron variant | — |
| rs12613140 | 2:135,061,644 | T/A | intron variant | — |
| rs4953911 | 2:135,068,794 | T/C | — | — |
| rs570561789 | 2:135,072,760 | G/A | — | — |
| rs146396288 | 2:135,075,135 | C/T | — | uncertain significance |
| rs1439109 | 2:135,083,922 | A/G | intron variant | — |
| rs200147803 | 2:135,095,833 | G/A | — | uncertain significance |
| rs758454135 | 2:135,095,839 | C/T | — | uncertain significance |
| rs374507734 | 2:135,095,855 | T/G | — | uncertain significance |
| rs765813408 | 2:135,095,911 | C/T | — | uncertain significance |
| rs201224826 | 2:135,095,912 | G/A | — | uncertain significance |
| rs2467465551 | 2:135,095,933 | T/C | — | uncertain significance |
| rs142027297 | 2:135,095,944 | A/C | — | uncertain significance |
| rs139598273 | 2:135,099,203 | A/C | — | uncertain significance |
| rs2467496307 | 2:135,099,317 | G/A | — | uncertain significance |
| rs201546855 | 2:135,102,625 | G/C | — | uncertain significance |
| rs12467609 | 2:135,143,287 | C/T | intron variant | — |
| rs139534721 | 2:135,160,648 | C/T | — | likely benign |
| rs762955892 | 2:135,180,394 | C/T | — | likely benign |
| rs751839499 | 2:135,206,374 | G/C | — | uncertain significance |
| rs34944508 | 2:135,207,964 | C/T | 3 prime UTR variant | — |
| rs539588 | 2:135,212,329 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.