ABO
Summary: This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Jul 2008].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:110300 Ensembl IDEnsembl:ENSG00000175164 HGNC IDHGNC:HGNC:79 PHARMGKB IDPA24415 Map Location9q34.2 | |||||
GO terms in ABO
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0005576 | extracellular region |
| CC | IBA | GO:0005794 | Golgi apparatus |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IBA | GO:0031982 | vesicle |
| CC | IEA | GO:0032580 | Golgi cisterna membrane |
| BP | IEA | GO:0005975 | carbohydrate metabolic process |
Gene expression in normal tissue: ABO
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ABO
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ABO
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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