Voltage-gated delayed rectifier potassium channel KCNH5

UniProt Q8NCM2 Organism Homo sapiens Gene EAG2, KCNH5

Also known as: EAG2, KCNH5

Function

Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel that mediates outward-rectifying potassium currents which, on depolarization, reaches a steady-state level and do not inactivate. The kinetic is characterized by a slow activation time course and a small voltage dependence of the activation time constants, therefore, starts to open at more negative voltages. The activation kinetics depend on the prepulse potential and external divalent cation concentration. The time course of activation is biphasic with a fast and a slowly activating current component. With negative prepulses, the current activation is delayed and slowed down several fold, whereas more positive prepulses speed up activation, therefore the activation rate depends on holding potential.

Classification

Family (Pfam): PF00027 cNMP_binding, PF00520 Ion_trans, PF13426 PAS_9
InterPro: cNMP-bd_dom, cNMP-bd_dom_sf, Ion_trans_dom, K_chnl_volt-dep_EAG, K_chnl_volt-dep_EAG/ELK/ERG, KCNH_animal-type, PAC, PAS, PAS-assoc_C, PAS-like_dom_sf, RmlC-like_jellyroll
Functional cluster: Protein Serine/Threonine Kinases

Experimental structures · PDB · 6

7YID EM 3.40A
7YIE EM 3.40A
7YIF EM 3.50A
7YIG EM 3.60A
7YIH EM 3.50A
7YIJ EM 3.80A

A predicted model is available from AlphaFold.

Gene Ontology · 12

Disease associations

developmental and epileptic encephalopathy 112 MONDO:0957812

Drugs targeting this protein · 6

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Laminin subunit beta-1 1 shared papers
Voltage-gated delayed rectifier potassium channel KCNH1 1 shared papers
Olfactory receptor 10H2 1 shared papers
Probable tRNA methyltransferase 9B 1 shared papers
Rho guanine nucleotide exchange factor 15 1 shared papers
Adhesion G protein-coupled receptor L2 1 shared papers
Zinc finger protein 182 1 shared papers
Cell division cycle and apoptosis regulator protein 1 1 shared papers
Transcription elongation factor A protein 2 1 shared papers
Sal-like protein 2 1 shared papers
ADP-ribose glycohydrolase MACROD2 1 shared papers
Metabotropic glycine receptor 1 shared papers

Literature · 13 cited papers

Mechanism underlying delayed rectifying in human voltage-mediated activation Eag2 channel. Nat. Commun. · 2023
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. Neurology · 2023
Clinical Feature, Treatment, and KCNH5 Mutations in Epilepsy. Front. Pediatr. · 2022
Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital. Front. Pediatr. · 2021
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late. Clin. Genet. · 2020
Multistate structural modeling and voltage-clamp analysis of epilepsy/autism mutation Kv10.2-R327H demonstrate the role of this residue in stabilizing the channel closed state. J. Neurosci. · 2013
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia · 2013
Proteomic analysis of ubiquitinated proteins in normal hepatocyte cell line Chang liver cells. Proteomics · 2008
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. · 2004
Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat. Genet. · 2004
The DNA sequence and analysis of human chromosome 14. Nature · 2003
Molecular identification and characterisation of the human eag2 potassium channel. FEBS Lett. · 2002
… and 1 more in the literature graph

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