ABCC8
Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:600509 Ensembl IDEnsembl:ENSG00000006071 HGNC IDHGNC:HGNC:59 PHARMGKB IDPA24395 Map Location11p15.1 | |||||
GO terms in ABCC8
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0005267 | potassium channel activity |
| MF | IMP | GO:0005267 | potassium channel activity |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IEA | GO:0008281 | sulfonylurea receptor activity |
| MF | TAS | GO:0015272 | ATP-activated inward rectifier potassium channel activity |
| MF | IBA | GO:0042626 | ATPase activity, coupled to transmembrane movement of substances |
Gene expression in normal tissue: ABCC8
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ABCC8
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-1296025 | ATP sensitive Potassium channels |
| reactome | R-HSA-1296065 | Inwardly rectifying K+ channels |
| reactome | R-HSA-1296071 | Potassium Channels |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-163685 | Integration of energy metabolism |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ABCC8
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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