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: 3769
MIM: 603208
HGNC: 6259
Ensembl: ENSG00000115474
Variants:
dbSNP: 3769
ClinVar: 3769
TCGA: ENSG00000115474
COSMIC: KCNJ13
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Protein digestion and absorption | KEGG | ko04974 |
| Protein digestion and absorption | KEGG | hsa04974 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36717105 | 2023 | The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control. | 2 |
| 36717105 | 2023 | The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control. | 2 |
| 35477418 | 2022 | A novel phenotype associated with the R162W variant in the KCNJ13 gene. | 0 |
| 35477418 | 2022 | A novel phenotype associated with the R162W variant in the KCNJ13 gene. | 0 |
| 32437550 | 2020 | KCNJ13 Gene Deletion Impairs Cell Alignment and Phagocytosis in Retinal Pigment Epithelium Derived from Human-Induced Pluripotent Stem Cells. | 8 |
| 32437550 | 2020 | KCNJ13 Gene Deletion Impairs Cell Alignment and Phagocytosis in Retinal Pigment Epithelium Derived from Human-Induced Pluripotent Stem Cells. | 8 |
| 31647904 | 2019 | Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish. | 8 |
| 31647904 | 2019 | Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish. | 8 |
| 29058194 | 2018 | Characterization of MC4R Regulation of the Kir7.1 Channel Using the Tl(+) Flux Assay. | 6 |
| 29058194 | 2018 | Characterization of MC4R Regulation of the Kir7.1 Channel Using the Tl(+) Flux Assay. | 6 |
| 27203561 | 2017 | LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13. | 11 |
| 28603013 | 2017 | Oxytocin (OXT)-stimulated inhibition of Kir7.1 activity is through PIP(2)-dependent Ca(2+) response of the oxytocin receptor in the retinal pigment epithelium in vitro. | 18 |
| 28878288 | 2017 | Abnormal Electroretinogram after Kir7.1 Channel Suppression Suggests Role in Retinal Electrophysiology. | 20 |
| 27203561 | 2017 | LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13. | 11 |
| 28603013 | 2017 | Oxytocin (OXT)-stimulated inhibition of Kir7.1 activity is through PIP(2)-dependent Ca(2+) response of the oxytocin receptor in the retinal pigment epithelium in vitro. | 18 |
Citation
Dessen P
KCNJ13 (potassium inwardly rectifying channel subfamily J member 13)
Atlas Genet Cytogenet Oncol Haematol. 2013-02-01
Online version: http://atlasgeneticsoncology.org/gene/53158/kcnj13
