Identity
HGNC
LOCATION
1q31.3
LOCUSID
ALIAS
DEE57,EIEE57,KCa4.2,SLICK,SLO2.1
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: 343450
MIM: 610044
HGNC: 18866
Ensembl: ENSG00000162687
Variants:
dbSNP: 343450
ClinVar: 343450
TCGA: ENSG00000162687
COSMIC: KCNT2
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA164712563 | Bisphosphonates | Chemical | ClinicalAnnotation | associated | PD | ||
| PA445187 | Osteonecrosis | Disease | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37062836 | 2023 | KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties. | 6 |
| 37062836 | 2023 | KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties. | 6 |
| 34061450 | 2021 | Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype. | 6 |
| 34061450 | 2021 | Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype. | 6 |
| 32561484 | 2020 | In silico and in vitro analysis of cation-activated potassium channels in human corneal endothelial cells. | 0 |
| 32796851 | 2020 | An inducible circular RNA circKcnt2 inhibits ILC3 activation to facilitate colitis resolution. | 37 |
| 32931186 | 2020 | New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review. | 3 |
| 32561484 | 2020 | In silico and in vitro analysis of cation-activated potassium channels in human corneal endothelial cells. | 0 |
| 32796851 | 2020 | An inducible circular RNA circKcnt2 inhibits ILC3 activation to facilitate colitis resolution. | 37 |
| 32931186 | 2020 | New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review. | 3 |
| 31557882 | 2019 | Common Nevus and Skin Cutaneous Melanoma: Prognostic Genes Identified by Gene Co-Expression Network Analysis. | 16 |
| 31557882 | 2019 | Common Nevus and Skin Cutaneous Melanoma: Prognostic Genes Identified by Gene Co-Expression Network Analysis. | 16 |
| 27682982 | 2017 | Molecular mechanisms of Slo2 K(+) channel closure. | 4 |
| 28222129 | 2017 | Heteromeric Slick/Slack K+ channels show graded sensitivity to cell volume changes. | 5 |
| 29069600 | 2017 | A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy. | 20 |
Citation
Dessen P
KCNT2 (potassium sodium-activated channel subfamily T member 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64813/gene-explorer/teaching-explorer/
