GCNT2
Summary: This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| glucosaminyl (N-acetyl) transferase 2 (I blood group) | MIM:600429 | Ensembl:ENSG00000111846 | HGNC:HGNC:4204 | PA169 | 6p24.3-p24.2 |
GO terms in GCNT2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IMP | GO:0008109 | N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity |
| CC | IEA | GO:0000139 | Golgi membrane |
| CC | ND | GO:0005575 | cellular_component |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | TAS | GO:0016020 | membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| BP | TAS | GO:0006024 | glycosaminoglycan biosynthetic process |
| BP | IEA | GO:0006486 | protein glycosylation |
| BP | IMP | GO:0006486 | protein glycosylation |
| BP | IMP | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | TAS | GO:0007275 | multicellular organism development |
| BP | ISS | GO:0008284 | positive regulation of cell proliferation |
| BP | IMP | GO:0010608 | posttranscriptional regulation of gene expression |
| BP | IMP | GO:0010718 | positive regulation of epithelial to mesenchymal transition |
| BP | IMP | GO:0010812 | negative regulation of cell-substrate adhesion |
| BP | IMP | GO:0030335 | positive regulation of cell migration |
| BP | IMP | GO:0034116 | positive regulation of heterotypic cell-cell adhesion |
| BP | IMP | GO:0036438 | maintenance of lens transparency |
| BP | IMP | GO:0051897 | positive regulation of protein kinase B signaling |
| BP | IMP | GO:0070374 | positive regulation of ERK1 and ERK2 cascade |
Gene expression in normal tissue: GCNT2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GCNT2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| humancyc | PWY-7434 | terminal O-glycans residues modification |
| kegg | hsa00601 | Glycosphingolipid biosynthesis - lacto and neolacto series - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD494 | Neopeltolide | 1 |
| iGMDRD142 | NSC74859 | 2 |
| iGMDRD201 | SKI II | 1 |
| iGMDRD123 | Isoevodiamine | 2 |
| iGMDRD802 | 4-methylfasudil | 2 |
| iGMDRD513 | BML-259 | 2 |
| iGMDRD271 | Brefeldin A | 2 |
| iGMDRD187 | BRD9876 | 2 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD888 | Compound 44 | 2 |
| iGMDRD329 | Merck60 | 3 |
| iGMDRD562 | Navitoclax | 2 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD100 | Zebularine | 3 |
| iGMDRD451 | Serdemetan | 2 |
| iGMDRD60 | Quinoclamine | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GCNT2
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