Last update 01 Nov 2024

KCNH5

Last update 01 Nov 2024

Basic Info

Synonyms

EAG2, ether-a-go-go 2, Ether-a-go-go potassium channel 2

+ [7]

Introduction

Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a non-inactivating outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly.

Drugs associated with KCNH5

EAG2-Kvβ2 targeted peptides (SickKids)

Target

KCNAB2 x KCNH5

Mechanism

KCNAB2 blockers [+1]

Active Org.

The Hospital for Sick Children

Originator Org.

The Hospital for Sick Children

Active Indication

Glioblastoma

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

WO2023065046

Patent Mining

Target

KCNH5

Mechanism-

Active Org.

The Hospital for Sick Children

Originator Org.

The Hospital for Sick Children

Active Indication

Neoplasms

Inactive Indication-

Drug Highest PhaseDiscovery

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with KCNH5

100 Translational Medicine associated with KCNH5

0 Patents (Medical) associated with KCNH5

Literatures (Medical) associated with KCNH5

01 Jul 2024·Behavioural Brain Research

KCNH5 deletion increases autism susceptibility by regulating neuronal growth through Akt/mTOR signaling pathway

Article

Author: Chen, Fuxue ; Liu, Yamei ; Feng, Shini ; Yu, Lele ; Xia, Junyu

Recent clinical studies have highlighted mutations in the voltage-gated potassium channel Kv10.2 encoded by the KCNH5 gene among individuals with autism spectrum disorder (ASD). Our preliminary study found that Kv10.2 was decreased in the hippocampus of valproic acid (VPA) - induced ASD rats. Nevertheless, it is currently unclear how KCNH5 regulates autism-like features, or becomes a new target for autism treatment. We employed KCNH5 knockout (KCNH5^-/-) rats and VPA - induced ASD rats in this study. Then, we used behavioral assessments, combined with electrophysiological recordings and hippocampal brain slice, to elucidate the impact of KCNH5 deletion and environmental factors on neural development and function in rats. We found that KCNH5^-/- rats showed early developmental delay, neuronal overdevelopment, and abnormal electroencephalogram (EEG) signals, but did not exhibit autism-like behavior. KCNH5^-/- rats exposed to VPA (KCNH5^-/--VPA) exhibit even more severe autism-like behaviors and abnormal neuronal development. The absence of KCNH5 excessively enhances the activity of the Protein Kinase B (Akt)/Mechanistic Target of Rapamycin (mTOR) signaling pathway in the hippocampus of rats after exposure to VPA. Overall, our findings underscore the deficiency of KCNH5 increases the susceptibility to autism under environmental exposures, suggesting its potential utility as a target for screening and diagnosis in ASD.

01 Jun 2024·Journal of Comparative Neurology

Thalamic activity‐dependent specification of sensory input neurons in the developing chick entopallium

Article

Author: Katayama, Ryoka ; Kumamoto, Takuma ; Ohtaka-Maruyama, Chiaki ; Wada, Kyosuke ; Hanashima, Carina

AbstractDuring development, cell‐intrinsic and cell‐extrinsic factors play important roles in neuronal differentiation; however, the underlying mechanisms in nonmammalian species remain largely unknown. We here investigated the mechanisms responsible for the differentiation of sensory input neurons in the chick entopallium, which receives its primary visual input via the tectofugal pathway from the nucleus rotundus. The results obtained revealed that input neurons in the entopallium expressed Potassium Voltage‐Gated Channel Subfamily H Member 5 (KCNH5/EAG2) mRNA from embryonic day (E) 11. On the other hand, the onset of protein expression was E20, which was 1 day before hatching. We confirm that entopallium input neurons in chicks were generated during early neurogenesis in the lateral and ventral ventricular zones. Notably, neurons derived from the lateral (LP) and ventral pallium (VP) exhibited a spatially distinct distribution along the rostro–caudal axis. We further demonstrated that the expression of EAG2 was directly regulated by input activity from thalamic axons. Collectively, the present results reveal that thalamic input activity is essential for specifying input neurons among LP‐ and VP‐derived early‐generated neurons in the developing chick entopallium.

01 Jan 2024·Internal Medicine

A Novel <i>De Novo</i> Variant in <i>KCNH5</i> in a Patient with Refractory Epileptic Encephalopathy

Article

Author: Fujio, Keishi ; Toda, Tatsushi ; Mitsutake, Akihiko ; Tsuji, Shoji ; Matsukawa, Takashi ; Mitsui, Jun ; Naito, Tatsuhiko ; Harada, Hiroaki ; Mori, Harushi ; Morishita, Shinichi ; Fujishiro, Jun ; Ishiura, Hiroyuki

We herein report a novel de novo KCNH5 variant in a patient with refractory epileptic encephalopathy. The patient exhibited seizures at 1 year and 7 months old, which gradually worsened, leading to a bedridden status. Brain magnetic resonance imaging (MRI) showed cerebral atrophy and cerebellar hypoplasia. A trio whole-exome sequence analysis identified a de novo heterozygous c.640A>C, p.Lys214Gln variant in KCNH5 that was predicted to be deleterious. Recent studies have linked KCNH5 to various epileptic encephalopathies, with many patients showing normal MRI findings. The present case expands the clinical spectrum of the disease, as it is characterized by severe neurological prognosis, cerebral atrophy, and cerebellar hypoplasia.

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KCNH5

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