Identity
HGNC
LOCATION
14q23.2
LOCUSID
ALIAS
EAG2,H-EAG2,Kv10.2,hEAG2
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: 27133
MIM: 605716
HGNC: 6254
Ensembl: ENSG00000140015
Variants:
dbSNP: 27133
ClinVar: 27133
TCGA: ENSG00000140015
COSMIC: KCNH5
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000140015 | ENST00000322893 | Q8NCM2 |
| ENSG00000140015 | ENST00000394968 | Q8NCM2 |
| ENSG00000140015 | ENST00000420622 | Q8NCM2 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Neuronal System | REACTOME | R-HSA-112316 |
| Potassium Channels | REACTOME | R-HSA-1296071 |
| Voltage gated Potassium channels | REACTOME | R-HSA-1296072 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36307226 | 2023 | Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. | 5 |
| 36928654 | 2023 | Mechanism underlying delayed rectifying in human voltage-mediated activation Eag2 channel. | 2 |
| 36307226 | 2023 | Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. | 5 |
| 36928654 | 2023 | Mechanism underlying delayed rectifying in human voltage-mediated activation Eag2 channel. | 2 |
| 36068614 | 2022 | A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism. | 0 |
| 36068614 | 2022 | A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism. | 0 |
| 33833419 | 2021 | Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population. | 6 |
| 33833419 | 2021 | Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population. | 6 |
| 32097463 | 2020 | Chloride intracellular channel 1 cooperates with potassium channel EAG2 to promote medulloblastoma growth. | 15 |
| 32097463 | 2020 | Chloride intracellular channel 1 cooperates with potassium channel EAG2 to promote medulloblastoma growth. | 15 |
| 25542181 | 2015 | A sustained increase in the intracellular Ca²⁺ concentration induces proteolytic cleavage of EAG2 channel. | 1 |
| 26258683 | 2015 | EAG2 potassium channel with evolutionarily conserved function as a brain tumor target. | 40 |
| 25542181 | 2015 | A sustained increase in the intracellular Ca²⁺ concentration induces proteolytic cleavage of EAG2 channel. | 1 |
| 26258683 | 2015 | EAG2 potassium channel with evolutionarily conserved function as a brain tumor target. | 40 |
| 24759919 | 2014 | Retrotransposon hypomethylation in melanoma and expression of a placenta-specific gene. | 4 |
Citation
Dessen P
KCNH5 (potassium voltage-gated channel subfamily H member 5)
Atlas Genet Cytogenet Oncol Haematol. 2008-07-01
Online version: http://atlasgeneticsoncology.org/gene/50268/kcnh5
