HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HCN4
hyperpolarization activated cyclic nucleotide gated potassium channel 4
Chromosome 15 Β· 15q24.1
NCBI Gene: 10021Ensembl: ENSG00000138622.4HGNC: HGNC:16882UniProt: Q9Y3Q4
100PubMed Papers
23Diseases
4Drugs
22Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
potassium ion import across plasma membraneprotein bindingSA node cell action potentialmembrane depolarization during SA node cell action potentialsick sinus syndrome 2, autosomal dominantatrial fibrillationheart failureBrugada syndrome 8
✦AI Summary

HCN4 encodes a hyperpolarization-activated cyclic nucleotide-gated ion channel permeable to both Na+ and K+ ions, with preferential selectivity for K+ 1. The channel exhibits very slow activation and inactivation kinetics 123. HCN4 is the primary molecular determinant of the funny current (If) in cardiac sinoatrial node pacemaker cells, where it drives spontaneous depolarization and regulates heartbeat rhythm 145. Beyond the sinoatrial node, HCN4 contributes to pacemaker function in the atrioventricular node and generates hyperpolarization-activated currents (Ih) in neurons 67. HCN4 activity is regulated primarily by cAMP and protein kinase A, enabling neurohumoral modulation of heart rate 6. Pathologically, HCN4 variants associate with multiple arrhythmias: truncating variants and transmembrane mutations link to left ventricular noncompaction with arrhythmogenic phenotypes 8, while the G1097W variant causes atrioventricular block 6. HCN4 downregulation occurs in heart failure and atrial fibrillation, contributing to sinus node remodeling 9. In stem cell therapeutics, HCN4 abolition prevents automaticity in transplanted cardiomyocytes, reducing engraftment arrhythmias 10. HCN4 also plays roles in absence seizure generation 7 and sinoatrial node homeostasis through Hippo signaling interactions 11.

Sources cited
1
HCN4 encodes a hyperpolarization-activated cyclic nucleotide-gated ion channel permeable to both Na+ and K+ ions, with preferential selectivity for K+ .
PMID: 10228147
2
Beyond the sinoatrial node, HCN4 contributes to pacemaker function in the atrioventricular node and generates hyperpolarization-activated currents (Ih) in neurons , .
PMID: 39988103
3
Pathologically, HCN4 variants associate with multiple arrhythmias: truncating variants and transmembrane mutations link to left ventricular noncompaction with arrhythmogenic phenotypes , while the G1097W variant causes atrioventricular block .
PMID: 33500567
4
HCN4 downregulation occurs in heart failure and atrial fibrillation, contributing to sinus node remodeling .
PMID: 21102315
5
In stem cell therapeutics, HCN4 abolition prevents automaticity in transplanted cardiomyocytes, reducing engraftment arrhythmias .
PMID: 37028405
6
Beyond the sinoatrial node, HCN4 contributes to pacemaker function in the atrioventricular node and generates hyperpolarization-activated currents (Ih) in neurons , .
PMID: 37001612
7
HCN4 also plays roles in absence seizure generation and sinoatrial node homeostasis through Hippo signaling interactions .
PMID: 36317529
Disease Associationsβ“˜23
sick sinus syndrome 2, autosomal dominantOpen Targets
0.73Strong
atrial fibrillationOpen Targets
0.71Strong
heart failureOpen Targets
0.60Moderate
Brugada syndrome 8Open Targets
0.59Moderate
angina pectorisOpen Targets
0.57Moderate
cardiac arrhythmiaOpen Targets
0.57Moderate
atrial flutterOpen Targets
0.52Moderate
Abnormality of the cardiovascular systemOpen Targets
0.51Moderate
cardiovascular diseaseOpen Targets
0.49Moderate
Left ventricular noncompaction cardiomyopathyOpen Targets
0.44Moderate
congestive heart failureOpen Targets
0.41Moderate
sinoatrial node disorderOpen Targets
0.41Moderate
familial sick sinus syndromeOpen Targets
0.39Weak
diabetes mellitusOpen Targets
0.33Weak
Alzheimer diseaseOpen Targets
0.33Weak
type 2 diabetes mellitusOpen Targets
0.33Weak
coronary artery diseaseOpen Targets
0.33Weak
eye diseaseOpen Targets
0.31Weak
cardioembolic strokeOpen Targets
0.29Weak
septic shockOpen Targets
0.28Weak
Brugada syndrome 8UniProt
Epilepsy, idiopathic generalized 18UniProt
Sick sinus syndrome 2UniProt
Pathogenic Variants22
NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg)Pathogenic
not provided|Brugada syndrome 8|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2026β†’ Residue 482
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His)Pathogenic
Sick sinus syndrome 2, autosomal dominant|Brugada syndrome 8|not provided|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 481
NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys)Pathogenic
Brugada syndrome 8|not provided|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 375
NM_005477.3(HCN4):c.1454C>T (p.Ala485Val)Pathogenic
Left ventricular noncompaction cardiomyopathy|Brugada syndrome 8|Cardiovascular phenotype|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 485
NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser)Pathogenic
Brugada syndrome 8|Left ventricular noncompaction cardiomyopathy|Cardiovascular phenotype|HCN4-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 480
NM_005477.3(HCN4):c.1061A>G (p.Tyr354Cys)Pathogenic
Brugada syndrome 8|HCN4-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 354
NM_005477.3(HCN4):c.1591-1861_2867delLikely pathogenic
Sick sinus syndrome 2, autosomal dominant
β˜…β˜†β˜†β˜†2026
NM_005477.3(HCN4):c.1124G>A (p.Arg375His)Likely pathogenic
Brugada syndrome 8
β˜…β˜†β˜†β˜†2026β†’ Residue 375
NM_005477.3(HCN4):c.1439G>T (p.Gly480Val)Likely pathogenic
Brugada syndrome 8
β˜…β˜†β˜†β˜†2025β†’ Residue 480
NM_005477.3(HCN4):c.1442A>G (p.Tyr481Cys)Likely pathogenic
Brugada syndrome 8
β˜…β˜†β˜†β˜†2023β†’ Residue 481
NM_005477.3(HCN4):c.2515_2518dup (p.Ala840fs)Likely pathogenic
Brugada syndrome 8
β˜…β˜†β˜†β˜†2022β†’ Residue 840
NM_005477.3(HCN4):c.1433G>A (p.Cys478Tyr)Likely pathogenic
HCN4-related disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 478
NM_005477.3(HCN4):c.1471G>C (p.Asp491His)Likely pathogenic
Brugada syndrome 8
β˜…β˜†β˜†β˜†2022β†’ Residue 491
NM_005477.3(HCN4):c.2143+1G>ALikely pathogenic
Brugada syndrome 8
β˜…β˜†β˜†β˜†2022
NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg)Pathogenic
Sick sinus syndrome 2, autosomal dominant|not provided|Brugada syndrome 8
β˜…β˜†β˜†β˜†2021β†’ Residue 482
NM_005477.3(HCN4):c.1445G>A (p.Gly482Glu)Likely pathogenic
Left ventricular noncompaction cardiomyopathy
β˜…β˜†β˜†β˜†β†’ Residue 482
NM_005477.3(HCN4):c.1920_1932dup (p.Lys645fs)Pathogenic
Sick sinus syndrome 2, autosomal dominant
β˜†β˜†β˜†β˜†2014β†’ Residue 645
NM_005477.3(HCN4):c.1241C>G (p.Ala414Gly)Pathogenic
Sick sinus syndrome 2, autosomal dominant
β˜†β˜†β˜†β˜†2014β†’ Residue 414
NM_005477.3(HCN4):c.1438G>C (p.Gly480Arg)Pathogenic
Sick sinus syndrome 2, autosomal dominant
β˜†β˜†β˜†β˜†2007β†’ Residue 480
NM_005477.3(HCN4):c.2016C>A (p.Ser672Arg)Pathogenic
Sick sinus syndrome 2, autosomal dominant
β˜†β˜†β˜†β˜†2006β†’ Residue 672
View on ClinVar β†—
Drug Targets4
DRONEDARONEApproved
Sodium channel alpha subunit blocker
cardiac arrhythmia
DRONEDARONE HYDROCHLORIDEApproved
Sodium channel alpha subunit blocker
atrial fibrillation
IVABRADINEApproved
Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 blocker
cardiovascular disease
IVABRADINE HYDROCHLORIDEApproved
Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 blocker
congestive heart failure
Related Genes
SCN2AProtein interaction92%CACNA1CProtein interaction85%GPD1LProtein interaction83%SCN1BProtein interaction83%GJC1Protein interaction83%KCNE3Protein interaction82%
Tissue Expression6 tissues
Heart
100%
Brain
55%
Lung
0%
Bone Marrow
0%
Liver
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
HCN4SCN2ACACNA1CGPD1LSCN1BGJC1KCNE3
PROTEIN STRUCTURE
Preparing viewer…
PDB3OTF Β· 2.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.57Moderately Constrained
pLIβ“˜
0.15Tolerant
Observed/Expected LoF0.42 [0.31–0.57]
RankingsWhere HCN4 stands among ~20K protein-coding genes
  • #4,782of 20,598
    Most Researched100 Β· top quartile
  • #418of 1,025
    FDA-Approved Drug Targets4
  • #2,101of 5,498
    Most Pathogenic Variants22
  • #3,761of 17,882
    Most Constrained (LOEUF)0.57 Β· top quartile
Genes detectedHCN4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The expanding phenotypes of cohesinopathies: one ring to rule them all!
PMID: 31516082
Cell Cycle Β· 2019
1.00
2
Gene editing to prevent ventricular arrhythmias associated with cardiomyocyte cell therapy.
PMID: 37028405
Cell Stem Cell Β· 2023
0.90
3
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
PMID: 33500567
Genet Med Β· 2021
0.80
4
Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.
PMID: 35302338
Eur J Transl Myol Β· 2022
0.70
5
HCN4 in the atrioventricular node.
PMID: 39988103
Heart Rhythm Β· 2025
0.60