| Disease ID | Disease name | Source of annotation with MGAT2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS212066 | CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE II | ClinVar, OMIM, HUMSAVAR | link to OMIM | 16 | B4GALT1, MOGS, SLC35C1, COG4, SLC39A8, TMEM199, COG5, SLC35A2, TMEM165, COG8, COG1, SLC35A1, COG6, MGAT2, CCDC115, COG7 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| N-Glycan biosynthesis | hsa00510 | 7.07 |
| Metabolic pathways | hsa01100 | 2.49 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Asparagine N-linked glycosylation | R-HSA-446203 | 6.1 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| Reactions specific to the complex N-glycan synthesis pathway | R-HSA-975578 | 10.98 |
| Defective MGAT2 causes MGAT2-CDG (CDG-2a) | R-HSA-4793952 | 12.98 |
| Diseases of glycosylation | R-HSA-3781865 | 6.89 |
| Post-translational protein modification | R-HSA-597592 | 4.54 |
| Transport to the Golgi and subsequent modification | R-HSA-948021 | 7.81 |
| Diseases associated with N-glycosylation of proteins | R-HSA-3781860 | 8.89 |
| Disease | R-HSA-1643685 | 3.33 |
| N-glycan antennae elongation in the medial/trans-Golgi | R-HSA-975576 | 8.66 |
| GO term | GO ID | GO IC |
|---|---|---|
| alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity | GO:0008455 | 9.74 |
| carbohydrate binding | GO:0030246 | 4.17 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| binding | GO:0005488 | 0.18 |
| transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
| transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
| acetylglucosaminyltransferase activity | GO:0008375 | 5.85 |
| UDP-glycosyltransferase activity | GO:0008194 | 4.81 |