Identity
HGNC
LOCATION
17q24.3
LOCUSID
ALIAS
ATFB9,HHBIRK1,HHIRK1,IRK1,KIR2.1,LQT7,SQT3
FUSION GENES
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: 3759
MIM: 600681
HGNC: 6263
Ensembl: ENSG00000123700
Variants:
dbSNP: 3759
ClinVar: 3759
TCGA: ENSG00000123700
COSMIC: KCNJ2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000123700 | ENST00000243457 | P63252 |
| ENSG00000123700 | ENST00000535240 | P63252 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38261726 | 2024 | The Kir2.1E299V mutation increases atrial fibrillation vulnerability while protecting the ventricles against arrhythmias in a mouse model of short QT syndrome type 3. | 1 |
| 38672523 | 2024 | Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report. | 0 |
| 38261726 | 2024 | The Kir2.1E299V mutation increases atrial fibrillation vulnerability while protecting the ventricles against arrhythmias in a mouse model of short QT syndrome type 3. | 1 |
| 38672523 | 2024 | Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report. | 0 |
| 37061738 | 2023 | Overexpression of KCNJ2 enhances maturation of human-induced pluripotent stem cell-derived cardiomyocytes. | 2 |
| 37184279 | 2023 | Activation of Kir2.1 improves myocardial fibrosis by inhibiting Ca (2+) overload and the TGF-β1/Smad signaling pathway. | 2 |
| 37061738 | 2023 | Overexpression of KCNJ2 enhances maturation of human-induced pluripotent stem cell-derived cardiomyocytes. | 2 |
| 37184279 | 2023 | Activation of Kir2.1 improves myocardial fibrosis by inhibiting Ca (2+) overload and the TGF-β1/Smad signaling pathway. | 2 |
| 34255421 | 2022 | Association analysis of SNPs in GRHL3, FAF1, and KCNJ2 with NSCPO sub-phenotypes in Han Chinese. | 0 |
| 34821995 | 2022 | A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome. | 1 |
| 34890278 | 2022 | Differential effects of obesity on visceral versus subcutaneous adipose arteries: role of shear-activated Kir2.1 and alterations to the glycocalyx. | 8 |
| 35273141 | 2022 | Elevated Kir2.1/nuclear N2ICD defines a highly malignant subtype of non-WNT/SHH medulloblastomas. | 1 |
| 35363405 | 2022 | α(1) -Adrenoceptors activate the NLRP3 inflammasome through downregulation of Kir2.1 in cardiac inflammation. | 1 |
| 35729093 | 2022 | Kir2.1-mediated membrane potential promotes nutrient acquisition and inflammation through regulation of nutrient transporters. | 7 |
| 36149965 | 2022 | Cryo-electron microscopy unveils unique structural features of the human Kir2.1 channel. | 9 |
Citation
Dessen P
KCNJ2 (potassium inwardly rectifying channel subfamily J member 2)
Atlas Genet Cytogenet Oncol Haematol. 2009-11-01
Online version: http://atlasgeneticsoncology.org/gene/51201/kcnj2-(potassium-inwardly-rectifying-channel-subfamily-j-member-2)
