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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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HCN2
hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2
Chromosome 19 Β· 19p13.3
NCBI Gene: 610Ensembl: ENSG00000099822.3HGNC: HGNC:4846UniProt: Q9UL51
67PubMed Papers
22Diseases
0Drugs
10Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cellular response to cAMPpotassium ion transmembrane transportvoltage-gated potassium channel activitysodium ion transmembrane transportfebrile seizures, familial, 2neurodegenerative diseaseFebrile seizure (within the age range of 3 months to 6 years)generalized epilepsy with febrile seizures plus
✦AI Summary

HCN2 encodes a hyperpolarization-activated ion channel permeable to both sodium and potassium ions with lower K+ selectivity 12. The channel generates pacemaker currents (If) in cardiac tissue and (Ih) in neurons, contributing to spontaneous activity generation and heart rate control 134. HCN2 regulates neuronal excitability, dendritic integration, and membrane potential 4. Pathogenic variants in HCN2 cause neurodevelopmental disorders including developmental delay/intellectual disability (17/21 patients), epilepsy (10/21), language disorders (16/21), and movement disorders (12/21) 5. Functional analyses reveal variants can cause loss-of-function through impaired membrane trafficking or gain-of-function through increased conductance 5. HCN2 dysregulation also associates with Alzheimer's disease; reduced HCN2 expression in hippocampal CA1 pyramidal neurons correlates with neuronal hyperexcitability and memory deficits in both mouse models and AD patients, while HCN2 overexpression rescues these phenotypes 6. Additionally, HCN2 variants link to familial febrile seizures and idiopathic generalized epilepsy 17 7. HCN2 shows dysregulation in schizophrenia-associated genetic risk in orbitofrontal cortex excitatory neurons 8.

Sources cited
1
HCN2 is permeable to sodium and potassium ions with lower K+ selectivity
PMID: 10228147
2
HCN2 displays lower selectivity for K+ over Na+ ions
PMID: 22006928
3
HCN2 contributes to pacemaker currents in heart and neurons
PMID: 10524219
4
HCN channels regulate neuronal excitability, dendritic integration, and contribute to heart rate control
PMID: 20213494
5
HCN2 variants cause neurodevelopmental disorders with developmental delay, epilepsy, language disorders, and movement disorders; variants exhibit loss-of-function or gain-of-function
PMID: 40468825
6
HCN2 dysregulation in Alzheimer's disease correlates with hippocampal neuronal hyperexcitability and memory deficits
PMID: 40016780
7
HCN2 variants link to absence seizures and epilepsy
PMID: 37001612
8
HCN2 shows dysregulation in schizophrenia-associated genetic risk in orbitofrontal cortex
PMID: 40053590
Disease Associationsβ“˜22
febrile seizures, familial, 2Open Targets
0.60Moderate
neurodegenerative diseaseOpen Targets
0.50Moderate
Febrile seizure (within the age range of 3 months to 6 years)Open Targets
0.39Weak
generalized epilepsy with febrile seizures plusOpen Targets
0.39Weak
epilepsyOpen Targets
0.38Weak
Alzheimer diseaseOpen Targets
0.34Weak
Parkinson diseaseOpen Targets
0.32Weak
lysosomal storage diseaseOpen Targets
0.32Weak
multiple sclerosisOpen Targets
0.32Weak
Neurodevelopmental delayOpen Targets
0.27Weak
smoking initiationOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
atherosclerosisOpen Targets
0.16Weak
kidney diseaseOpen Targets
0.16Weak
cardiomyopathyOpen Targets
0.12Weak
SeizureOpen Targets
0.11Weak
generalised epilepsyOpen Targets
0.09Suggestive
X-linked non-syndromic intellectual disabilityOpen Targets
0.09Suggestive
Generalized epilepsy with febrile seizures-plusOpen Targets
0.09Suggestive
temporal lobe epilepsyOpen Targets
0.09Suggestive
Epilepsy, idiopathic generalized 17UniProt
Febrile seizures, familial, 2UniProt
Pathogenic Variants10
NM_001194.4(HCN2):c.1120A>C (p.Met374Leu)Pathogenic
not provided|HCN2 related developmental and epileptic encephalopathy|Epilepsy, idiopathic generalized, susceptibility to, 17
β˜…β˜…β˜†β˜†2025β†’ Residue 374
NM_001194.4(HCN2):c.1432_1434del (p.Glu478del)Pathogenic
not provided|Neurodevelopmental delay|HCN2 related developmental and epileptic encephalopathy
β˜…β˜…β˜†β˜†2025β†’ Residue 478
NM_001194.4(HCN2):c.1976G>A (p.Arg659His)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 659
NM_001194.4(HCN2):c.1379G>A (p.Gly460Asp)Pathogenic
HCN2 related developmental and epileptic encephalopathy
β˜…β˜†β˜†β˜†2024β†’ Residue 460
NM_001194.4(HCN2):c.1088C>T (p.Ala363Val)Pathogenic
HCN2 related developmental and epileptic encephalopathy
β˜…β˜†β˜†β˜†β†’ Residue 363
NM_001194.4(HCN2):c.1478C>T (p.Pro493Leu)Pathogenic
HCN2 related developmental and epileptic encephalopathy
β˜…β˜†β˜†β˜†β†’ Residue 493
NM_001194.4(HCN2):c.971G>A (p.Arg324His)Pathogenic
HCN2 related developmental and epileptic encephalopathy
β˜…β˜†β˜†β˜†β†’ Residue 324
NM_001194.4(HCN2):c.1936_1937insT (p.Pro646fs)Pathogenic
HCN2 related developmental and epileptic encephalopathy
β˜…β˜†β˜†β˜†β†’ Residue 646
NM_001194.4(HCN2):c.1760G>A (p.Gly587Asp)Pathogenic
HCN2 related developmental and epileptic encephalopathy
β˜…β˜†β˜†β˜†β†’ Residue 587
NM_001194.4(HCN2):c.377C>T (p.Ser126Leu)Pathogenic
Febrile seizures, familial, 2
β˜†β˜†β˜†β˜†2021β†’ Residue 126
View on ClinVar β†—
Related Genes
CDC42EP5Protein interaction77%HCN3Protein interaction76%HCN1Protein interaction65%HCN4Protein interaction65%KCNH8Shared pathway25%KCNH7Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Heart
64%
Bone Marrow
2%
Liver
1%
Lung
1%
Ovary
0%
Gene Interaction Network
Click a node to explore
HCN2CDC42EP5HCN3HCN1HCN4KCNH8KCNH7
PROTEIN STRUCTURE
Preparing viewer…
PDB3U10 Β· 2.30 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.63LoF Tolerant
pLIβ“˜
0.18Tolerant
Observed/Expected LoF0.42 [0.29–0.63]
RankingsWhere HCN2 stands among ~20K protein-coding genes
  • #6,991of 20,598
    Most Researched67
  • #2,858of 5,498
    Most Pathogenic Variants10
  • #4,421of 17,882
    Most Constrained (LOEUF)0.63 Β· top quartile
Genes detectedHCN2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Autozygome and high throughput confirmation of disease genes candidacy.
PMID: 30237576
Genet Med Β· 2019
1.00
2
HCN channels and absence seizures.
PMID: 37001612
Neurobiol Dis Β· 2023
0.90
3
Sinus node revisited.
PMID: 21102315
Curr Opin Cardiol Β· 2011
0.80
4
HCN2 deficiency correlates with memory deficits and hyperexcitability of dCA1 pyramidal neurons in Alzheimer's disease.
PMID: 40016780
Alzheimers Res Ther Β· 2025
0.70
5
Contrasting genetic predisposition and diagnosis in psychiatric disorders: A multi-omic single-nucleus analysis of the human OFC.
PMID: 40053590
Sci Adv Β· 2025
0.60