Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3758
MIM: 600359
HGNC: 6255
Ensembl: ENSG00000151704
Variants:
dbSNP: 3758
ClinVar: 3758
TCGA: ENSG00000151704
COSMIC: KCNJ1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA134875400 | WNK4 | Gene | Pathway | associated | 23788015 | ||
| PA33782 | WNK1 | Gene | Pathway | associated | 23788015 | ||
| PA443886 | Diabetes Mellitus | Disease | ClinicalAnnotation | associated | PD | 22907731 | |
| PA444552 | Hypertension | Disease | ClinicalAnnotation | associated | PD | 22907731 | |
| PA449899 | hydrochlorothiazide | Chemical | ClinicalAnnotation | associated | PD | 22907731 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37074453 | 2023 | Association of polymorphisms of calcium reabsorption genes SLC12A1, KCNJ1 and SLC8A1 with colorectal adenoma. | 0 |
| 37074453 | 2023 | Association of polymorphisms of calcium reabsorption genes SLC12A1, KCNJ1 and SLC8A1 with colorectal adenoma. | 0 |
| 33444624 | 2021 | Solubilization, purification, and functional reconstitution of human ROMK potassium channel in copolymer styrene-maleic acid (SMA) nanodiscs. | 9 |
| 33444624 | 2021 | Solubilization, purification, and functional reconstitution of human ROMK potassium channel in copolymer styrene-maleic acid (SMA) nanodiscs. | 9 |
| 33058840 | 2020 | Eight novel KCNJ1 variants and parathyroid hormone overaction or resistance in 5 probands with Bartter syndrome type 2. | 3 |
| 33058840 | 2020 | Eight novel KCNJ1 variants and parathyroid hormone overaction or resistance in 5 probands with Bartter syndrome type 2. | 3 |
| 31731540 | 2019 | Single-Channel Properties of the ROMK-Pore-Forming Subunit of the Mitochondrial ATP-Sensitive Potassium Channel. | 20 |
| 31731540 | 2019 | Single-Channel Properties of the ROMK-Pore-Forming Subunit of the Mitochondrial ATP-Sensitive Potassium Channel. | 20 |
| 29311259 | 2018 | The endosomal trafficking factors CORVET and ESCRT suppress plasma membrane residence of the renal outer medullary potassium channel (ROMK). | 9 |
| 29458000 | 2018 | Evidence for a mitochondrial ATP-regulated potassium channel in human dermal fibroblasts. | 25 |
| 30113482 | 2018 | Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation. | 4 |
| 29311259 | 2018 | The endosomal trafficking factors CORVET and ESCRT suppress plasma membrane residence of the renal outer medullary potassium channel (ROMK). | 9 |
| 29458000 | 2018 | Evidence for a mitochondrial ATP-regulated potassium channel in human dermal fibroblasts. | 25 |
| 30113482 | 2018 | Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation. | 4 |
| 28630040 | 2017 | Endoplasmic reticulum-associated degradation of the renal potassium channel, ROMK, leads to type II Bartter syndrome. | 25 |
Citation
Dessen P
KCNJ1 (potassium inwardly rectifying channel subfamily J member 1)
Atlas Genet Cytogenet Oncol Haematol. 2015-06-01
Online version: http://atlasgeneticsoncology.org/gene/55275/kcnj1-(potassium-inwardly-rectifying-channel-subfamily-j-member-1)
