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 |
|---|---|---|---|---|---|
| ATP binding cassette subfamily C member 8 | MIM:600509 | Ensembl:ENSG00000006071 | HGNC:HGNC:59 | PA24395 | 11p15.1 |
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 |
| MF | IPI | GO:0044325 | ion channel binding |
| BP | IBA | GO:0006813 | potassium ion transport |
| BP | TAS | GO:0006813 | potassium ion transport |
| BP | IEA | GO:0007165 | signal transduction |
| BP | IBA | GO:0042493 | response to drug |
| BP | TAS | GO:0050796 | regulation of insulin secretion |
| BP | IBA | GO:0055085 | transmembrane transport |
| BP | IEA | GO:0071805 | potassium ion transmembrane transport |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0008282 | inward rectifying potassium channel |
| CC | IDA | GO:0008282 | inward rectifying potassium channel |
| CC | IBA | GO:0016020 | membrane |
| CC | IBA | GO:0042383 | sarcolemma |
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 |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-422356 | Regulation of insulin secretion |
| reactome | R-HSA-5619084 | ABC transporter disorders |
| reactome | R-HSA-5619115 | Disorders of transmembrane transporters |
| reactome | R-HSA-5683177 | Defective ABCC8 can cause hypoglycemias and hyperglycemias |
| pid | hnf3bpathway | FOXA2 and FOXA3 transcription factor networks |
| kegg | hsa02010 | ABC transporters - Homo sapiens (human) |
| kegg | hsa04911 | Insulin secretion - Homo sapiens (human) |
| kegg | hsa04930 | Type II diabetes mellitus - Homo sapiens (human) |
| pharmgkb | PA153627758 | Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics |
| pharmgkb | PA2033 | Antiarrhythmic Pathway, Pharmacodynamics |
| smpdb | SMP00296 | Acebutolol Action Pathway |
| smpdb | SMP00297 | Alprenolol Action Pathway |
| smpdb | SMP00298 | Atenolol Action Pathway |
| smpdb | SMP00299 | Betaxolol Action Pathway |
| smpdb | SMP00300 | Bisoprolol Action Pathway |
| smpdb | SMP00301 | Esmolol Action Pathway |
| smpdb | SMP00302 | Metoprolol Action Pathway |
| smpdb | SMP00303 | Nadolol Action Pathway |
| smpdb | SMP00304 | Oxprenolol Action Pathway |
| smpdb | SMP00305 | Penbutolol Action Pathway |
| smpdb | SMP00306 | Pindolol Action Pathway |
| smpdb | SMP00307 | Propranolol Action Pathway |
| smpdb | SMP00323 | Quinidine Action Pathway |
| smpdb | SMP00324 | Procainamide (Antiarrhythmic) Action Pathway |
| smpdb | SMP00325 | Disopyramide Action Pathway |
| smpdb | SMP00326 | Fosphenytoin (Antiarrhythmic) Action Pathway |
| smpdb | SMP00327 | Phenytoin (Antiarrhythmic) Action Pathway |
| smpdb | SMP00328 | Lidocaine (Antiarrhythmic) Action Pathway |
| smpdb | SMP00329 | Mexiletine Action Pathway |
| smpdb | SMP00330 | Tocainide Action Pathway |
| smpdb | SMP00331 | Flecainide Action Pathway |
| smpdb | SMP00332 | Ibutilide Action Pathway |
| smpdb | SMP00359 | Diltiazem Action Pathway |
| smpdb | SMP00366 | Nebivolol Action Pathway |
| smpdb | SMP00367 | Carvedilol Action Pathway |
| smpdb | SMP00368 | Labetalol Action Pathway |
| smpdb | SMP00375 | Verapamil Action Pathway |
| smpdb | SMP00376 | Amlodipine Action Pathway |
| smpdb | SMP00377 | Felodipine Action Pathway |
| smpdb | SMP00378 | Isradipine Action Pathway |
| smpdb | SMP00379 | Nifedipine Action Pathway |
| smpdb | SMP00380 | Nimodipine Action Pathway |
| smpdb | SMP00381 | Nisoldipine Action Pathway |
| smpdb | SMP00382 | Nitrendipine Action Pathway |
| smpdb | SMP00453 | Nateglinide Action Pathway |
| smpdb | SMP00454 | Repaglinide Action Pathway |
| smpdb | SMP00460 | Glibenclamide Action Pathway |
| smpdb | SMP00461 | Gliclazide Action Pathway |
| smpdb | SMP00588 | Muscle/Heart Contraction |
| smpdb | SMP00643 | Pancreas Function |
| smpdb | SMP00657 | Bopindolol Action Pathway |
| smpdb | SMP00658 | Carteolol Action Pathway |
| smpdb | SMP00659 | Timolol Action Pathway |
| smpdb | SMP00660 | Sotalol Action Pathway |
| smpdb | SMP00661 | Epinephrine Action Pathway |
| smpdb | SMP00662 | Dobutamine Action Pathway |
| smpdb | SMP00663 | Isoprenaline Action Pathway |
| smpdb | SMP00664 | Arbutamine Action Pathway |
| smpdb | SMP00665 | Amiodarone Action Pathway |
| smpdb | SMP00666 | Levobunolol Action Pathway |
| smpdb | SMP00667 | Metipranolol Action Pathway |
| smpdb | SMP00668 | Bevantolol Action Pathway |
| smpdb | SMP00669 | Practolol Action Pathway |
| smpdb | SMP00670 | Bupranolol Action Pathway |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ABCC8
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