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 |
|---|---|---|---|---|---|
OMIM IDMIM:600429 Ensembl IDEnsembl:ENSG00000111846 HGNC IDHGNC:HGNC:4204 PHARMGKB IDPA169 Map Location6p24.3-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 |
Gene expression in normal tissue: GCNT2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GCNT2
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GCNT2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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