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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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KCNA5
potassium voltage-gated channel subfamily A member 5
Chromosome 12 Β· 12p13.32
NCBI Gene: 3741Ensembl: ENSG00000130037.5HGNC: HGNC:6224UniProt: P22460
135PubMed Papers
21Diseases
9Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membrane repolarization during bundle of His cell action potentialregulation of heart rate by cardiac conductionpotassium ion export across plasma membranemembrane repolarization during atrial cardiac muscle cell action potentialfamilial atrial fibrillationmultiple sclerosisMyasthenia gravisLambert-Eaton myasthenic syndrome
✦AI Summary

KCNA5 encodes Kv1.5, a voltage-gated potassium channel that mediates the atrial-specific ultra-rapid delayed rectifier potassium current (IKur), critical for atrial action potential repolarization 1. The channel exhibits faster depolarization kinetics and distinctive inactivation properties. KCNA5 functions through protein-protein interactions; FHL1 scaffolding protein associates with KCNA5 to enhance current density and modulate voltage-dependent activation 1. SNAP25-dependent membrane trafficking regulates Kv1.5 surface expression and internalization; SNAP25 downregulation increases membrane Kv1.5 levels, shortening atrial refractory period and increasing atrial fibrillation susceptibility 2. Pathologically, KCNA5 dysfunction associates with atrial fibrillation (AF), with reduced channel expression detected in AF patient atria; KCNA5 interacts with connexin proteins involved in atrial electrical remodeling 3. Loss-of-function variants (Arg184Pro, Gly384Arg) identified in pulmonary arterial hypertension (PAH) patients impair channel activity and reduce apoptosis in pulmonary artery smooth muscle cells, affecting vascular homeostasis 4. Conversely, KCNA5 overexpression enhances K+ efflux and apoptosis in vascular cells, suggesting therapeutic potential for PAH 5. KCNA5 polymorphisms show limited association with PAH susceptibility in meta-analysis 6. Recent evidence identifies KCNA5 as a drug target affecting brain functional activity 7.

Sources cited
1
SNAP25 regulates Kv1.5 (KCNA5) membrane trafficking and internalization; SNAP25 deficiency increases surface Kv1.5 expression, shortens atrial action potential duration, and increases atrial fibrillation susceptibility
PMID: 40253375
2
FHL1 protein interacts with KCNA5 in human atrium; coexpression increases potassium current density and modulates voltage-dependent activation of the IKur complex
PMID: 18281375
3
KCNA5 mRNA and protein expression are decreased in atrial fibrillation patient tissue; KCNA5 physically interacts with connexin 43 and connexin 40 proteins
PMID: 35870168
4
KCNA5 loss-of-function variants (Arg184Pro, Gly384Arg) found in PAH patients result in reduced channel activity and decreased apoptosis in pulmonary artery smooth muscle cells
PMID: 36917789
5
KCNA5 overexpression increases potassium currents, enhances caspase-3 activity, and induces apoptosis in pulmonary artery smooth muscle cells, with potential therapeutic application in PAH
PMID: 15140747
6
Meta-analysis found no significant association between KCNA5 rs10744676 polymorphism and pulmonary arterial hypertension risk
PMID: 30218748
7
KCNA5 identified as an approved drug target gene with association to brain functional activity in rare variant analysis
PMID: 41436735
8
KCNA5 (Kv1.5) protein expression detected in gastric and colorectal carcinoma tissues with predominantly cytoplasmic localization in tumor cells
PMID: 33267786
Disease Associationsβ“˜21
familial atrial fibrillationOpen Targets
0.62Moderate
multiple sclerosisOpen Targets
0.59Moderate
Myasthenia gravisOpen Targets
0.56Moderate
Lambert-Eaton myasthenic syndromeOpen Targets
0.55Moderate
atrial fibrillationOpen Targets
0.53Moderate
cardiac arrhythmiaOpen Targets
0.50Moderate
Muscle weaknessOpen Targets
0.46Moderate
congenital myasthenic syndromeOpen Targets
0.43Moderate
Congenital myasthenic syndromesOpen Targets
0.43Moderate
neoplasmOpen Targets
0.38Weak
cancerOpen Targets
0.38Weak
autoimmune diseaseOpen Targets
0.37Weak
autoimmune disorder of the nervous systemOpen Targets
0.37Weak
Increased muscle fatiguabilityOpen Targets
0.37Weak
nervous system diseaseOpen Targets
0.37Weak
nervous system neoplasmOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
neuromuscular diseaseOpen Targets
0.37Weak
paraneoplastic neurologic syndromeOpen Targets
0.37Weak
small cell carcinomaOpen Targets
0.37Weak
Atrial fibrillation, familial, 7UniProt
Pathogenic Variants3
NM_002234.4(KCNA5):c.143A>G (p.Glu48Gly)Pathogenic
Atrial fibrillation, familial, 7
β˜†β˜†β˜†β˜†2013β†’ Residue 48
NM_002234.4(KCNA5):c.1828G>A (p.Glu610Lys)Pathogenic
Atrial fibrillation, familial, 7
β˜†β˜†β˜†β˜†2009β†’ Residue 610
NM_002234.4(KCNA5):c.1123G>T (p.Glu375Ter)Pathogenic
Atrial fibrillation, familial, 7
β˜†β˜†β˜†β˜†2006β†’ Residue 375
View on ClinVar β†—
Drug Targets9
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
VERNAKALANTApproved
Sodium channel protein type V alpha subunit blocker
cardiac arrhythmia
VERNAKALANT HYDROCHLORIDEApproved
Sodium channel protein type V alpha subunit blocker
atrial fibrillation
Related Genes
KCNAB1Protein interaction99%KCNA2Protein interaction98%KCNAB2Protein interaction97%DLG1Protein interaction96%KCNAB3Protein interaction94%FAUProtein interaction91%
Tissue Expression6 tissues
Heart
100%
Brain
11%
Lung
9%
Ovary
9%
Bone Marrow
5%
Liver
1%
Gene Interaction Network
Click a node to explore
KCNA5KCNAB1KCNA2KCNAB2DLG1KCNAB3FAU
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P22460
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.18LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.83 [0.60–1.18]
RankingsWhere KCNA5 stands among ~20K protein-coding genes
  • #3,429of 20,598
    Most Researched135 Β· top quartile
  • #225of 1,025
    FDA-Approved Drug Targets7 Β· top quartile
  • #3,963of 5,498
    Most Pathogenic Variants3
  • #12,395of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedKCNA5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
5-HTT, BMPR2, EDN1, ENG, KCNA5 gene polymorphisms and susceptibility to pulmonary arterial hypertension: A meta-analysis.
PMID: 30218748
Gene Β· 2019
1.00
2
Overexpression of human KCNA5 increases IK V and enhances apoptosis.
PMID: 15140747
Am J Physiol Cell Physiol Β· 2004
0.90
3
SNAP25-dependent membrane trafficking of the Kv1.5 channel regulates the onset of atrial fibrillation.
PMID: 40253375
Nat Commun Β· 2025
0.80
4
Revisiting the Role of KCNA5 in Pulmonary Arterial Hypertension.
PMID: 37201951
Am J Respir Cell Mol Biol Β· 2023
0.70
5
Four and a half LIM protein 1: a partner for KCNA5 in human atrium.
PMID: 18281375
Cardiovasc Res Β· 2008
0.60