Identity
HGNC
LOCATION
17p11.2
LOCUSID
ALIAS
IRK-2,IRK2,KCNJN1,Kir2.2,Kir2.2v,hIRK,hIRK1,hkir2.2x,kcnj12x
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: 3768
MIM: 602323
HGNC: 6258
Ensembl: ENSG00000184185
Variants:
dbSNP: 3768
ClinVar: 3768
TCGA: ENSG00000184185
COSMIC: KCNJ12
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000184185 | ENST00000331718 | Q14500 |
| ENSG00000184185 | ENST00000583088 | Q14500 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34755307 | 2022 | CircRNA hsa_circ_0014130 function as a miR-132-3p sponge for playing oncogenic roles in bladder cancer via upregulating KCNJ12 expression. | 12 |
| 34755307 | 2022 | CircRNA hsa_circ_0014130 function as a miR-132-3p sponge for playing oncogenic roles in bladder cancer via upregulating KCNJ12 expression. | 12 |
| 29405996 | 2018 | Familial Esophageal Squamous Cell Carcinoma with damaging rare/germline mutations in KCNJ12/KCNJ18 and GPRIN2 genes. | 12 |
| 30838349 | 2018 | Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis. | 1 |
| 29405996 | 2018 | Familial Esophageal Squamous Cell Carcinoma with damaging rare/germline mutations in KCNJ12/KCNJ18 and GPRIN2 genes. | 12 |
| 30838349 | 2018 | Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis. | 1 |
| 28816949 | 2017 | Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy. | 5 |
| 28816949 | 2017 | Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy. | 5 |
| 26520451 | 2016 | Structural Basis for Differences in Dynamics Induced by Leu Versus Ile Residues in the CD Loop of Kir Channels. | 3 |
| 26786162 | 2016 | Nav1.5 N-terminal domain binding to α1-syntrophin increases membrane density of human Kir2.1, Kir2.2 and Nav1.5 channels. | 42 |
| 26520451 | 2016 | Structural Basis for Differences in Dynamics Induced by Leu Versus Ile Residues in the CD Loop of Kir Channels. | 3 |
| 26786162 | 2016 | Nav1.5 N-terminal domain binding to α1-syntrophin increases membrane density of human Kir2.1, Kir2.2 and Nav1.5 channels. | 42 |
| 26324774 | 2015 | Rise and Fall of Kir2.2 Current by TLR4 Signaling in Human Monocytes: PKC-Dependent Trafficking and PI3K-Mediated PIP2 Decrease. | 16 |
| 26324774 | 2015 | Rise and Fall of Kir2.2 Current by TLR4 Signaling in Human Monocytes: PKC-Dependent Trafficking and PI3K-Mediated PIP2 Decrease. | 16 |
| 23269273 | 2013 | Unconventional role of the inwardly rectifying potassium channel Kir2.2 as a constitutive activator of RelA in cancer. | 11 |
Citation
Dessen P
KCNJ12 (potassium inwardly rectifying channel subfamily J member 12)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/41049/kcnj12
