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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:152427 Ensembl IDEnsembl:ENSG00000055118 HGNC IDHGNC:HGNC:6251 PHARMGKB IDPA212 Map Location7q36.1 |
GO terms in KCNH2
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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 |
Gene expression in normal tissue: KCNH2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in KCNH2
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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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in KCNH2
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
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No matching records found |