KCNJ6
Summary: This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| potassium voltage-gated channel subfamily J member 6 | MIM:600877 | Ensembl:ENSG00000157542 | HGNC:HGNC:6267 | PA30049 | 21q22.13 |
GO terms in KCNJ6
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | HDA | GO:0005794 | Golgi apparatus |
| CC | HDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0008076 | voltage-gated potassium channel complex |
| BP | TAS | GO:0006813 | potassium ion transport |
| BP | IBA | GO:0010107 | potassium ion import |
| BP | IBA | GO:0034765 | regulation of ion transmembrane transport |
| BP | IEA | GO:0034765 | regulation of ion transmembrane transport |
| MF | IBA | GO:0005242 | inward rectifier potassium channel activity |
| MF | TAS | GO:0005242 | inward rectifier potassium channel activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | TAS | GO:0015467 | G-protein activated inward rectifier potassium channel activity |
Gene expression in normal tissue: KCNJ6
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in KCNJ6
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP4148 | Splicing factor NOVA regulated synaptic proteins |
| kegg | hsa04713 | Circadian entrainment - Homo sapiens (human) |
| kegg | hsa04723 | Retrograde endocannabinoid signaling - Homo sapiens (human) |
| kegg | hsa04725 | Cholinergic synapse - Homo sapiens (human) |
| kegg | hsa04726 | Serotonergic synapse - Homo sapiens (human) |
| kegg | hsa04727 | GABAergic synapse - Homo sapiens (human) |
| kegg | hsa04728 | Dopaminergic synapse - Homo sapiens (human) |
| kegg | hsa04915 | Estrogen signaling pathway - Homo sapiens (human) |
| kegg | hsa04921 | Oxytocin signaling pathway - Homo sapiens (human) |
| kegg | hsa05032 | Morphine addiction - Homo sapiens (human) |
| reactome | R-HSA-112314 | Neurotransmitter receptors and postsynaptic signal transmission |
| reactome | R-HSA-112315 | Transmission across Chemical Synapses |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-1296041 | Activation of G protein gated Potassium channels |
| reactome | R-HSA-1296059 | G protein gated Potassium channels |
| reactome | R-HSA-1296065 | Inwardly rectifying K+ channels |
| reactome | R-HSA-1296071 | Potassium Channels |
| reactome | R-HSA-977443 | GABA receptor activation |
| reactome | R-HSA-977444 | GABA B receptor activation |
| reactome | R-HSA-991365 | Activation of GABAB receptors |
| reactome | R-HSA-997272 | Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in KCNJ6
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