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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KCNH7
potassium voltage-gated channel subfamily H member 7
Chromosome 2 · 2q24.2
NCBI Gene: 90134Ensembl: ENSG00000184611.14HGNC: HGNC:18863UniProt: Q9NS40
25PubMed Papers
20Diseases
7Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
heme bindinginward rectifier potassium channel activitypotassium ion transportregulation of membrane potentialmultiple sclerosisMyasthenia gravisLambert-Eaton myasthenic syndromeMuscle weakness
✦AI Summary

KCNH7 encodes a pore-forming alpha subunit of voltage-gated inwardly rectifying potassium channels, exhibiting faster activation and deactivation kinetics with slow inactivation at membrane potentials positive to 240 mV, resulting in weak inward rectification 1. The channel operates through partial inductor-like gating dynamics, displaying rapid opposing conductance changes followed by slow activation in response to depolarizing voltage steps 2. KCNH7 has been implicated in several neurological conditions. A non-synonymous variant (p.Arg394His) showed association with bipolar spectrum disorder in Amish populations, altering steady-state voltage dependence and activation kinetics in neuronal cells while maintaining normal channel expression and trafficking 3. The gene has been identified as a potential biomarker associated with malignant cell proliferation in glioblastoma 4. Additionally, KCNH7 variants showed association with the metabolic subtype of polycystic ovary syndrome 5. Microdeletions encompassing KCNH7 at chromosome 2.2q24.3 are associated with intellectual disability, developmental delays, and neurological features 6. However, plasma KCNH7 levels showed no significant differences between fibromyalgia patients and controls 7.

Sources cited
1
KCNH7 is a pore-forming alpha subunit of voltage-gated inwardly rectifying potassium channels with specific kinetic properties
PMID: 32723862
2
KCNH7 channels exhibit partial inductor-like gating dynamics with rapid opposing conductance changes
PMID: 40473867
3
KCNH7 p.Arg394His variant is associated with bipolar spectrum disorder and alters channel kinetics
PMID: 24986916
4
KCNH7 is identified as a potential biomarker for malignant cell proliferation in glioblastoma
PMID: 38851695
5
KCNH7 variants are associated with the metabolic subtype of polycystic ovary syndrome
PMID: 32574161
6
KCNH7 microdeletions are associated with intellectual disability and neurological features
PMID: 35896065
7
KCNH7 plasma levels show no significant differences in fibromyalgia patients
PMID: 35818223
Disease Associationsⓘ20
multiple sclerosisOpen Targets
0.59Moderate
Myasthenia gravisOpen Targets
0.56Moderate
Lambert-Eaton myasthenic syndromeOpen Targets
0.55Moderate
Muscle weaknessOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.45Moderate
type 2 diabetes mellitusOpen Targets
0.44Moderate
congenital myasthenic syndromeOpen Targets
0.43Moderate
Congenital myasthenic syndromesOpen Targets
0.43Moderate
neoplasmOpen Targets
0.37Weak
cancerOpen Targets
0.37Weak
autoimmune diseaseOpen Targets
0.37Weak
autoimmune disorder of the nervous systemOpen Targets
0.37Weak
cardiac arrhythmiaOpen Targets
0.37Weak
immune system diseaseOpen Targets
0.37Weak
Increased muscle fatiguabilityOpen Targets
0.37Weak
nervous system diseaseOpen Targets
0.37Weak
nervous system neoplasmOpen Targets
0.37Weak
neuromuscular diseaseOpen Targets
0.37Weak
neuromuscular junction diseaseOpen Targets
0.37Weak
paraneoplastic neurologic syndromeOpen Targets
0.37Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
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 pathway100%KCNH3Shared pathway100%KCNH8Shared pathway100%GCAProtein interaction89%KCNH5Shared pathway80%KCNQ5Shared pathway75%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
8%
Liver
5%
Lung
5%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
KCNH7KCNH4KCNH3KCNH8GCAKCNH5KCNQ5
PROTEIN STRUCTURE
Preparing viewer…
PDB6Y7Q · 1.39 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.50Moderately Constrained
pLIⓘ
0.91Intolerant
Observed/Expected LoF0.38 [0.30–0.50]
RankingsWhere KCNH7 stands among ~20K protein-coding genes
  • #13,004of 20,598
    Most Researched25
  • #332of 1,025
    FDA-Approved Drug Targets5
  • #2,979of 17,882
    Most Constrained (LOEUF)0.50 · top quartile
Genes detectedKCNH7
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cross-disorder and disease-specific pathways in dementia revealed by single-cell genomics.
PMID: 39265576
Cell · 2024
1.00
2
Distinct subtypes of polycystic ovary syndrome with novel genetic associations: An unsupervised, phenotypic clustering analysis.
PMID: 32574161
PLoS Med · 2020
0.90
3
Unveiling novel cell clusters and biomarkers in glioblastoma and its peritumoral microenvironment at the single-cell perspective.
PMID: 38851695
J Transl Med · 2024
0.80
4
Potassium Ion Channel Protein (KCNH) Levels in Patients with Fibromyalgia Syndrome.
PMID: 35818223
Cell Mol Biol (Noisy-le-grand) · 2022
0.70
5
A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder.
PMID: 24986916
Hum Mol Genet · 2014
0.60