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 |
|---|---|---|---|---|---|
OMIM IDMIM:600877 Ensembl IDEnsembl:ENSG00000157542 HGNC IDHGNC:HGNC:6267 PHARMGKB IDPA30049 Map Location21q22.13 | |||||
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 |
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) |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD309 | 17AAG | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in KCNJ6
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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