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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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HCN1
hyperpolarization activated cyclic nucleotide gated potassium channel 1
Chromosome 5 Β· 5p12
NCBI Gene: 348980Ensembl: ENSG00000164588.9HGNC: HGNC:4845UniProt: O60741
61PubMed Papers
22Diseases
0Drugs
43Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedIon ChannelTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
HCN channel complexvoltage-gated potassium channel activityplasma membranevoltage-gated monoatomic cation channel activityGeneralized epilepsy with febrile seizures-plusundetermined early-onset epileptic encephalopathygenetic developmental and epileptic encephalopathydevelopmental and epileptic encephalopathy
✦AI Summary

HCN1 encodes a hyperpolarization-activated, cyclic nucleotide-gated ion channel that is permeable to both sodium and potassium ions, displaying lower selectivity for K+ over Na+ 1. The channel generates pacemaker currents (Ih) that control neuronal excitability and contribute to cardiac pacemaker activity 1. HCN1 is predominantly expressed in neocortical and hippocampal neurons and functions through voltage-dependent gating mechanisms that can be modulated by propofol binding to a conserved methionine-phenylalanine interface 2. The channel plays critical roles in dissociative states, with local HCN1 pacemakers in retrosplenial cortex required for ketamine-induced dissociation-like effects 3. Pathogenic HCN1 variants cause a spectrum of epileptic disorders, from severe developmental epileptic encephalopathy to milder generalized epilepsies 14. De novo mutations in transmembrane domains typically cause severe phenotypes through cation leak mechanisms, while variants outside these domains associate with milder phenotypes 1. Decreased HCN1 expression is observed in epilepsy models and patients, creating a paradoxical relationship where reduced HCN1 increases neuronal excitability yet HCN channel blockers can have antiepileptic effects 5. The channel shows sex-specific expression differences in motor neurons and represents a potential therapeutic target for precision epilepsy treatments 64.

Sources cited
1
HCN1 channel properties, epilepsy spectrum, and genotype-phenotype correlations
PMID: 30351409
2
Propofol binding mechanism and voltage-gating restoration in epilepsy mutants
PMID: 39085604
3
Role of HCN1 in dissociative states and retrosplenial cortex rhythm
PMID: 32939091
4
HCN1 epilepsy pathophysiology and precision therapy approaches
PMID: 37565989
5
Paradoxical relationship between HCN1 expression and epileptogenesis
PMID: 37366350
6
Sex-specific HCN1 expression differences in motor neurons
PMID: 38289829
Disease Associationsβ“˜22
Generalized epilepsy with febrile seizures-plusOpen Targets
0.79Strong
undetermined early-onset epileptic encephalopathyOpen Targets
0.71Strong
genetic developmental and epileptic encephalopathyOpen Targets
0.66Moderate
developmental and epileptic encephalopathyOpen Targets
0.55Moderate
schizophreniaOpen Targets
0.49Moderate
generalized epilepsy with febrile seizures plusOpen Targets
0.46Moderate
breast carcinomaOpen Targets
0.45Moderate
IrritabilityOpen Targets
0.39Weak
SeizureOpen Targets
0.38Weak
type 2 diabetes mellitusOpen Targets
0.37Weak
early-infantile DEEOpen Targets
0.37Weak
diabetic eye diseaseOpen Targets
0.35Weak
risk-taking behaviourOpen Targets
0.35Weak
genetic disorderOpen Targets
0.34Weak
Epileptic encephalopathyOpen Targets
0.34Weak
Febrile seizure (within the age range of 3 months to 6 years)Open Targets
0.34Weak
Color vision defectOpen Targets
0.33Weak
smoking initiationOpen Targets
0.31Weak
Abnormality of refractionOpen Targets
0.30Weak
luminal A breast carcinomaOpen Targets
0.30Weak
Developmental and epileptic encephalopathy 24UniProt
Generalized epilepsy with febrile seizures plus 10UniProt
Pathogenic Variants43
NM_021072.4(HCN1):c.1171G>A (p.Gly391Ser)Pathogenic
Generalized epilepsy with febrile seizures plus, type 10|not provided|Developmental and epileptic encephalopathy, 24|Early-infantile DEE|HCN1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 391
NM_021072.4(HCN1):c.299C>T (p.Ser100Phe)Pathogenic
Developmental and epileptic encephalopathy, 24|Generalized epilepsy with febrile seizures plus, type 10|not provided|Early-infantile DEE
β˜…β˜…β˜†β˜†2024β†’ Residue 100
NM_021072.4(HCN1):c.835C>T (p.His279Tyr)Pathogenic
Developmental and epileptic encephalopathy, 24|Early-infantile DEE
β˜…β˜…β˜†β˜†2023β†’ Residue 279
NM_021072.4(HCN1):c.814T>C (p.Ser272Pro)Pathogenic
Developmental and epileptic encephalopathy, 24|not provided
β˜…β˜…β˜†β˜†2021β†’ Residue 272
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp)Likely pathogenic
Epileptic encephalopathy|Developmental and epileptic encephalopathy, 24
β˜…β˜…β˜†β˜†2018β†’ Residue 391
NM_021072.4(HCN1):c.1144G>A (p.Gly382Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 382
NM_021072.4(HCN1):c.890G>C (p.Arg297Thr)Pathogenic
Developmental and epileptic encephalopathy, 24|Early-infantile DEE
β˜…β˜†β˜†β˜†2025β†’ Residue 297
NM_021072.4(HCN1):c.1136T>G (p.Met379Arg)Likely pathogenic
Generalized epilepsy with febrile seizures plus, type 10
β˜…β˜†β˜†β˜†2025β†’ Residue 379
NM_021072.4(HCN1):c.790A>T (p.Ser264Cys)Pathogenic
Early-infantile DEE
β˜…β˜†β˜†β˜†2024β†’ Residue 264
NM_021072.4(HCN1):c.701A>T (p.Tyr234Phe)Pathogenic
Early-infantile DEE
β˜…β˜†β˜†β˜†2024β†’ Residue 234
NM_021072.4(HCN1):c.1160C>G (p.Ala387Gly)Pathogenic
Early-infantile DEE
β˜…β˜†β˜†β˜†2023β†’ Residue 387
NM_021072.4(HCN1):c.881C>T (p.Ala294Val)Likely pathogenic
Early-infantile DEE
β˜…β˜†β˜†β˜†2023β†’ Residue 294
NM_021072.4(HCN1):c.908G>T (p.Gly303Val)Likely pathogenic
Early-infantile DEE
β˜…β˜†β˜†β˜†2023β†’ Residue 303
NM_021072.4(HCN1):c.1138A>T (p.Ile380Phe)Pathogenic
Generalized epilepsy with febrile seizures plus, type 10|Early-infantile DEE
β˜…β˜†β˜†β˜†2023β†’ Residue 380
NM_021072.4(HCN1):c.779C>T (p.Thr260Ile)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 260
NM_021072.4(HCN1):c.1159G>A (p.Ala387Thr)Likely pathogenic
Early-infantile DEE
β˜…β˜†β˜†β˜†2022β†’ Residue 387
NM_021072.4(HCN1):c.585G>T (p.Arg195Ser)Pathogenic
Early-infantile DEE
β˜…β˜†β˜†β˜†2022β†’ Residue 195
NM_021072.4(HCN1):c.1148C>T (p.Ala383Val)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 383
NM_021072.4(HCN1):c.1172G>T (p.Gly391Val)Pathogenic
Early-infantile DEE
β˜…β˜†β˜†β˜†2022β†’ Residue 391
NM_021072.4(HCN1):c.535A>T (p.Asn179Tyr)Likely pathogenic
Developmental and epileptic encephalopathy, 24
β˜…β˜†β˜†β˜†2022β†’ Residue 179
View on ClinVar β†—
Related Genes
PEX5LProtein interaction90%HCN3Protein interaction84%HCN4Protein interaction74%HCN2Protein interaction65%KCNH8Shared pathway24%KCNH7Shared pathway24%
Tissue Expression6 tissues
Brain
100%
Heart
1%
Liver
0%
Bone Marrow
0%
Ovary
0%
Lung
0%
Gene Interaction Network
Click a node to explore
HCN1PEX5LHCN3HCN4HCN2KCNH8KCNH7
PROTEIN STRUCTURE
Preparing viewer…
PDB9BC6 Β· 2.50 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.33Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.21 [0.13–0.33]
RankingsWhere HCN1 stands among ~20K protein-coding genes
  • #7,563of 20,598
    Most Researched61
  • #1,471of 5,498
    Most Pathogenic Variants43
  • #1,375of 17,882
    Most Constrained (LOEUF)0.33 Β· top 10%
Genes detectedHCN1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Deep posteromedial cortical rhythm in dissociation.
PMID: 32939091
Nature Β· 2020
1.00
2
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
PMID: 30351409
Brain Β· 2018
0.90
3
HCN1 epilepsy: From genetics and mechanisms to precision therapies.
PMID: 37565989
J Neurochem Β· 2024
0.80
4
Propofol rescues voltage-dependent gating of HCN1 channel epilepsy mutants.
PMID: 39085604
Nature Β· 2024
0.70
5
HCN channels and absence seizures.
PMID: 37001612
Neurobiol Dis Β· 2023
0.60