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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KCNH5
potassium voltage-gated channel subfamily H member 5
Chromosome 14 Β· 14q23.2
NCBI Gene: 27133Ensembl: ENSG00000140015.20HGNC: HGNC:6254UniProt: Q8NCM2
36PubMed Papers
21Diseases
7Drugs
11Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
potassium ion transportvoltage-gated potassium channel complexvoltage-gated potassium channel activitydelayed rectifier potassium channel activitydevelopmental and epileptic encephalopathy 112Myasthenia gravismultiple sclerosisLambert-Eaton myasthenic syndrome
✦AI Summary

KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2, which functions as a pore-forming alpha subunit that mediates outward-rectifying potassium currents 1. The channel exhibits delayed rectifier properties with slow activation kinetics and voltage-dependent gating that begins at negative voltages, with activation rates dependent on holding potential and prepulse conditions 1. KCNH5 plays a critical role in neuronal excitability and brain function, as pathogenic variants in the voltage-sensing and pore domains cause developmental and epileptic encephalopathy 112 1. Clinical manifestations range from self-limited epilepsy with normal cognition to severe infantile-onset encephalopathy with profound disability, showing genotype-phenotype correlations 1. The channel demonstrates functional crosstalk with other KCNH subfamily members, where gain-of-function mutations can affect heteromeric channel complexes and alter neuronal membrane potential 2. Beyond neurological disorders, KCNH5 has been implicated as an autism spectrum disorder susceptibility gene 3 and shows tissue-specific expression patterns, including placenta-specific retrotransposon-derived transcripts that are aberrantly expressed in melanoma through hypomethylation 4. The channel also serves as a potential cardiac targeting mechanism and may contribute to pancreatic duct epithelial cell function 56.

Sources cited
1
KCNH5 encodes EAG2/Kv10.2 channel with delayed rectifier properties and causes developmental epileptic encephalopathy
PMID: 36307226
2
Demonstrates functional crosstalk with other KCNH subfamily members affecting neuronal membrane potential
PMID: 41656275
3
Identified as autism spectrum disorder susceptibility gene
PMID: 34008235
4
Shows placenta-specific expression through retrotransposon hypomethylation, aberrantly expressed in melanoma
PMID: 24759919
5
May serve as cardiac targeting mechanism through Kcnh5 binding
PMID: 30441852
6
Contributes to pancreatic duct epithelial cell K+ channel function
PMID: 23962792
Disease Associationsβ“˜21
developmental and epileptic encephalopathy 112Open Targets
0.67Moderate
Myasthenia gravisOpen Targets
0.60Moderate
multiple sclerosisOpen Targets
0.59Moderate
Lambert-Eaton myasthenic syndromeOpen Targets
0.55Moderate
developmental and epileptic encephalopathyOpen Targets
0.50Moderate
developmental and epileptic encephalopathy, 12Open Targets
0.50Moderate
Muscle weaknessOpen Targets
0.46Moderate
genetic disorderOpen Targets
0.45Moderate
congenital myasthenic syndromeOpen Targets
0.43Moderate
Congenital myasthenic syndromesOpen Targets
0.43Moderate
placenta praeviaOpen Targets
0.38Weak
neoplasmOpen Targets
0.37Weak
cancerOpen Targets
0.37Weak
nervous system diseaseOpen Targets
0.37Weak
cardiac arrhythmiaOpen Targets
0.37Weak
immune system diseaseOpen Targets
0.37Weak
Increased muscle fatiguabilityOpen Targets
0.37Weak
infantile-onset epilepsyOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
undetermined early-onset epileptic encephalopathyOpen Targets
0.37Weak
Developmental and epileptic encephalopathy 112UniProt
Pathogenic Variants11
NM_139318.5(KCNH5):c.980G>A (p.Arg327His)Pathogenic
not provided|Inborn genetic diseases|Developmental and epileptic encephalopathy 112|Early-infantile DEE
β˜…β˜…β˜†β˜†2026β†’ Residue 327
NM_139318.5(KCNH5):c.998G>A (p.Arg333His)Pathogenic
Developmental and epileptic encephalopathy 112|Early-infantile DEE
β˜…β˜…β˜†β˜†2025β†’ Residue 333
NM_139318.5(KCNH5):c.1679G>A (p.Arg560His)Likely pathogenic
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
β˜…β˜†β˜†β˜†2025β†’ Residue 560
NM_139318.5(KCNH5):c.908A>G (p.Tyr303Cys)Pathogenic
Early-infantile DEE
β˜…β˜†β˜†β˜†2025β†’ Residue 303
NM_139318.5(KCNH5):c.998G>T (p.Arg333Leu)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 333
NM_139318.5(KCNH5):c.979C>T (p.Arg327Cys)Likely pathogenic
Early-infantile DEE
β˜…β˜†β˜†β˜†2024β†’ Residue 327
NM_139318.5(KCNH5):c.1382C>A (p.Ala461Glu)Likely pathogenic
Developmental and epileptic encephalopathy 112
β˜…β˜†β˜†β˜†2023β†’ Residue 461
NM_139318.5(KCNH5):c.979C>A (p.Arg327Ser)Likely pathogenic
Early-infantile DEE
β˜…β˜†β˜†β˜†2023β†’ Residue 327
NM_139318.5(KCNH5):c.2020-4A>GPathogenic
Developmental and epileptic encephalopathy 112
β˜†β˜†β˜†β˜†2026
NM_139318.5(KCNH5):c.1402A>C (p.Thr468Pro)Pathogenic
Developmental and epileptic encephalopathy 112
β˜†β˜†β˜†β˜†2026β†’ Residue 468
NM_139318.5(KCNH5):c.1412T>C (p.Phe471Ser)Pathogenic
Developmental and epileptic encephalopathy 112
β˜†β˜†β˜†β˜†2026β†’ Residue 471
View on ClinVar β†—
Drug Targets7
AMIFAMPRIDINEApproved
Voltage-gated potassium channel blocker
Myasthenia gravis
AMIFAMPRIDINE PHOSPHATEApproved
Voltage-gated potassium channel blocker
Lambert-Eaton myasthenic syndrome
DALFAMPRIDINEApproved
Voltage-gated potassium channel blocker
multiple sclerosis
GUANIDINEPhase III
Voltage-gated potassium channel blocker
neuroendocrine neoplasm
GUANIDINE HYDROCHLORIDEApproved
Voltage-gated potassium channel blocker
Myasthenia gravis
NERISPIRDINEPhase II
Voltage-gated potassium channel blocker
multiple sclerosis
TEDISAMILApproved
Voltage-gated potassium channel blocker
cardiac arrhythmia
Related Genes
KCNH4Shared pathway80%KCNH3Shared pathway80%KCNH8Shared pathway80%KCNH7Shared pathway80%KCNU1Shared pathway60%KCNQ5Shared pathway60%
Tissue Expression6 tissues
Brain
100%
Lung
2%
Liver
2%
Ovary
1%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
KCNH5KCNH4KCNH3KCNH8KCNH7KCNU1KCNQ5
PROTEIN STRUCTURE
Preparing viewer…
PDB7YID Β· 3.40 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.56Moderately Constrained
pLIβ“˜
0.11Tolerant
Observed/Expected LoF0.42 [0.32–0.56]
RankingsWhere KCNH5 stands among ~20K protein-coding genes
  • #10,803of 20,598
    Most Researched36
  • #324of 1,025
    FDA-Approved Drug Targets5
  • #2,796of 5,498
    Most Pathogenic Variants11
  • #3,584of 17,882
    Most Constrained (LOEUF)0.56 Β· top quartile
Genes detectedKCNH5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of
PMID: 36307226
Neurology Β· 2023
1.00
2
Potassium channels and autism spectrum disorder: An overview.
PMID: 34008235
Int J Dev Neurosci Β· 2021
0.90
3
Crosstalk of KCNH1 and KCNH5 gain-of-function mutations leading to epilepsy and neurodevelopmental disorders.
PMID: 41656275
Mol Brain Β· 2026
0.80
4
Retrotransposon hypomethylation in melanoma and expression of a placenta-specific gene.
PMID: 24759919
PLoS One Β· 2014
0.70
5
Heritability estimates of individual psychological distress symptoms from genetic variation.
PMID: 31003110
J Affect Disord Β· 2019
0.60