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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KCNA7
potassium voltage-gated channel subfamily A member 7
Chromosome 19 · 19q13.33
NCBI Gene: 3743Ensembl: ENSG00000104848.2HGNC: HGNC:6226UniProt: Q96RP8
11PubMed Papers
20Diseases
7Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingdelayed rectifier potassium channel activitypotassium ion transmembrane transportaction potentialmultiple sclerosisMyasthenia gravisLambert-Eaton myasthenic syndromeMuscle weakness
✦AI Summary

KCNA7 encodes Kv1.7, a voltage-gated potassium channel that mediates potassium ion permeability across excitable membranes 1. The protein contains six membrane-spanning domains and a characteristic potassium-selective pore region, forming a rapidly inactivating delayed rectifier potassium channel with a single-channel conductance of 21 pS 2. Unlike other Kv1 family members, KCNA7 has an intronless coding region interrupted by a conserved 1.9 kb intron 3. The gene is preferentially expressed in skeletal muscle, heart, and kidney, with cardiac expression contributing to action potential repolarization 1. KCNA7 shows potent sensitivity to noxiustoxin and stichodactylatoxin but insensitivity to tetraethylammonium and related toxins 2. Beyond cardiac function, KCNA7 participates in volume regulation in human spermatozoa 4 and is upregulated by bone morphogenetic protein-2 in pulmonary artery smooth muscle cells, contributing to control of apoptosis and proliferation 5. Recent evidence indicates KCNA7 methylation correlates with paternal age and can be transmitted to offspring, potentially contributing to developmental disorders 6, and serves as an age estimation marker in forensic applications 7. Direct sequencing excluded KCNA7 as the causative gene for progressive familial heart block I, though regulatory region mutations remain possible 3.

Sources cited
1
Human KCNA7 gene isolation, protein structure (456 amino acids, 6 transmembrane domains), preferential expression in skeletal muscle, heart, and kidney
PMID: 11368907
2
Novel Kv1.7 gene characteristics including intronless coding region with 1.9 kb intron, voltage-dependent rapid inactivation, single-channel conductance (21 pS), toxin sensitivity profile, expression in heart, muscle, and pancreatic islets
PMID: 9488722
3
KCNA7 characterization as delayed rectifier potassium channel, orthology with mouse kcna7, cardiac expression detection, exclusion as PFHBI causative gene, identification of SNPs in exon 2
PMID: 11896454
4
KCNA7 (Kv1.7) involvement in volume regulation of human spermatozoa through regulatory volume decrease
PMID: 16421215
5
BMP-2 upregulates KCNA7 mRNA expression in human pulmonary artery smooth muscle cells, contributing to control of apoptosis and proliferation
PMID: 16815889
6
KCNA7 methylation negatively correlates with paternal age in sperm and is transmitted to offspring, potentially contributing to disease risk
PMID: 28171595
7
KCNA7 CpG methylation serves as an age estimation marker in semen samples with robust forensic applications
PMID: 39162072
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
congenital myasthenic syndromeOpen Targets
0.43Moderate
Congenital myasthenic syndromesOpen Targets
0.43Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
cancerOpen Targets
0.37Weak
neoplasmOpen 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
small cell carcinomaOpen 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
KCNA3Shared pathway100%KCNA6Shared pathway100%KCNV2Shared pathway100%KCNV1Shared pathway100%KCND1Shared pathway100%KCNA10Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Brain
58%
Lung
38%
Ovary
32%
Liver
23%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
KCNA7KCNA3KCNA6KCNV2KCNV1KCND1KCNA10
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96RP8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.24LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.56–1.24]
RankingsWhere KCNA7 stands among ~20K protein-coding genes
  • #16,788of 20,598
    Most Researched11
  • #348of 1,025
    FDA-Approved Drug Targets5
  • #13,047of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedKCNA7
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Initial isolation and analysis of the human Kv1.7 (KCNA7) gene, a member of the voltage-gated potassium channel gene family.
PMID: 11368907
Gene · 2001
1.00
2
Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation.
PMID: 28171595
Hum Mol Genet · 2016
0.90
3
Characterisation of the human voltage-gated potassium channel gene, KCNA7, a candidate gene for inherited cardiac disorders, and its exclusion as cause of progressive familial heart block I (PFHBI).
PMID: 11896454
Eur J Hum Genet · 2002
0.80
4
Genomic organization, chromosomal localization, tissue distribution, and biophysical characterization of a novel mammalian Shaker-related voltage-gated potassium channel, Kv1.7.
PMID: 9488722
J Biol Chem · 1998
0.70
5
Bone morphogenetic protein-2 upregulates expression and function of voltage-gated K+ channels in human pulmonary artery smooth muscle cells.
PMID: 16815889
Am J Physiol Lung Cell Mol Physiol · 2006
0.60