KCNH2
Summary: This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| potassium voltage-gated channel subfamily H member 2 | MIM:152427 | Ensembl:ENSG00000055118 | HGNC:HGNC:6251 | PA212 | 7q36.1 |
GO terms in KCNH2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0000160 | phosphorelay signal transduction system |
| BP | TAS | GO:0003064 | regulation of heart rate by hormone |
| BP | IEA | GO:0023014 | signal transduction by protein phosphorylation |
| BP | IDA | GO:0035690 | cellular response to drug |
| BP | IBA | GO:0042391 | regulation of membrane potential |
| BP | IDA | GO:0042391 | regulation of membrane potential |
| BP | IDA | GO:0055075 | potassium ion homeostasis |
| BP | IMP | GO:0060048 | cardiac muscle contraction |
| BP | IDA | GO:0060306 | regulation of membrane repolarization |
| BP | IMP | GO:0060307 | regulation of ventricular cardiac muscle cell membrane repolarization |
| BP | IDA | GO:0071435 | potassium ion export |
| BP | IBA | GO:0071805 | potassium ion transmembrane transport |
| BP | IDA | GO:0071805 | potassium ion transmembrane transport |
| BP | IMP | GO:0086005 | ventricular cardiac muscle cell action potential |
| BP | IMP | GO:0086009 | membrane repolarization |
| BP | IDA | GO:0086010 | membrane depolarization during action potential |
| BP | IDA | GO:0086011 | membrane repolarization during action potential |
| BP | IMP | GO:0086013 | membrane repolarization during cardiac muscle cell action potential |
| BP | IMP | GO:0086091 | regulation of heart rate by cardiac conduction |
| BP | IGI | GO:0097623 | potassium ion export across plasma membrane |
| BP | IMP | GO:0098915 | membrane repolarization during ventricular cardiac muscle cell action potential |
| BP | IDA | GO:1901379 | regulation of potassium ion transmembrane transport |
| BP | IDA | GO:1901380 | negative regulation of potassium ion transmembrane transport |
| BP | IDA | GO:1901381 | positive regulation of potassium ion transmembrane transport |
| BP | IDA | GO:1902303 | negative regulation of potassium ion export |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | IMP | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0005887 | integral component of plasma membrane |
| CC | IDA | GO:0008076 | voltage-gated potassium channel complex |
| CC | IMP | GO:0008076 | voltage-gated potassium channel complex |
| CC | IDA | GO:0009986 | cell surface |
| CC | IMP | GO:0048471 | perinuclear region of cytoplasm |
| CC | IMP | GO:1902937 | inward rectifier potassium channel complex |
| MF | IEA | GO:0000155 | phosphorelay sensor kinase activity |
| MF | IDA | GO:0005242 | inward rectifier potassium channel activity |
| MF | IMP | GO:0005242 | inward rectifier potassium channel activity |
| MF | IBA | GO:0005249 | voltage-gated potassium channel activity |
| MF | IDA | GO:0005249 | voltage-gated potassium channel activity |
| MF | IDA | GO:0005251 | delayed rectifier potassium channel activity |
| MF | IGI | GO:0005251 | delayed rectifier potassium channel activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0031625 | ubiquitin protein ligase binding |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | IPI | GO:0042803 | protein homodimerization activity |
| MF | IPI | GO:0055131 | C3HC4-type RING finger domain binding |
| MF | IC | GO:0086008 | voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization |
| MF | IPI | GO:0097110 | scaffold protein binding |
| MF | IMP | GO:1902282 | voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization |
Gene expression in normal tissue: KCNH2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in KCNH2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-1296071 | Potassium Channels |
| reactome | R-HSA-1296072 | Voltage gated Potassium channels |
| reactome | R-HSA-397014 | Muscle contraction |
| reactome | R-HSA-5576890 | Phase 3 - rapid repolarisation |
| reactome | R-HSA-5576891 | Cardiac conduction |
| 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 | SMP00588 | Muscle/Heart Contraction |
| 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 |
| wikipathways | WP2849 | Hematopoietic Stem Cell Differentiation |
| wikipathways | WP706 | Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD158 | NSC141540 | 2 |
| iGMDRD137 | Indisulam | 2 |
| iGMDRD121 | GMX1778 | 2 |
| iGMDRD267 | Oligomycin A | 4 |
| iGMDRD705 | Nakiterpiosin | 2 |
| iGMDRD505 | Pevonedistat | 2 |
| iGMDRD512 | nutlin 3 | 1 |
| iGMDRD79 | Gemcitabine | 3 |
| iGMDRD345 | Compound 10b [PMID: 11504634] | 2 |
| iGMDRD424 | Tamatinib | 2 |
| iGMDRD341 | Triacsin c | 2 |
| iGMDRD154 | NSC23766 | 2 |
| iGMDRD435 | BI-2536 | 6 |
| iGMDRD123 | Isoevodiamine | 8 |
| iGMDRD474 | Avrainvillamide | 2 |
| iGMDRD577 | BIX01294 | 1 |
| iGMDRD399 | Selumetinib | 3 |
| iGMDRD100 | Zebularine | 4 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD64 | Parbendazole | 2 |
| iGMDRD690 | PRIMA-1MET | 1 |
| iGMDRD420 | Leucascandrolide A | 3 |
| iGMDRD387 | CHIR-99021 | 1 |
| iGMDRD151 | CHM-1 | 6 |
| iGMDRD462 | OSI-906 (Linsitinib) | 1 |
| iGMDRD546 | BMS-754807 | 6 |
| iGMDRD193 | Fqi1 | 3 |
| iGMDRD61 | Kinetin riboside | 1 |
| iGMDRD679 | Bistramide A | 1 |
| iGMDRD280 | CYTOCHALASIN B | 5 |
| iGMDRD394 | BX-795 | 2 |
| iGMDRD297 | Austocystin D | 4 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in KCNH2
CLASSFICATION
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