HCN2 Chromosome 19
Hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2
Upload your DNA to see your personal genotypes for variants in HCN2.
What This Gene Does
The protein encoded by this gene is a hyperpolarization-activated cation channel involved in the generation of native pacemaker activity in the heart and in the brain. The encoded protein is activated by cAMP and can produce a fast, large current. Defects in this gene were noted as a possible cause of some forms of epilepsy. [provided by RefSeq, Jan 2017]
Gene Info
Gene Group
Cyclic nucleotide gated channels
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000099822
Associated Conditions (11)
HCN2 related developmental and epileptic encephalopathy
Inborn genetic diseases
See cases
Febrile seizures
familial
2
Epilepsy
idiopathic generalized
susceptibility to
17
Neurodevelopmental delay
Key Variants
RS1983378176
Conflicting classifications of pathogenicity
HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy
Health Risk
RS201057562
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2144516632
Conflicting classifications of pathogenicity
HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy
Health Risk
RS2144519137
Conflicting classifications of pathogenicity
HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy
Health Risk
RS750959680
Conflicting classifications of pathogenicity
See cases, Inborn genetic diseases, See cases
Health Risk
RS753793346
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1258293482
Pathogenic
Febrile seizures, familial, 2
Health Risk
RS2512439870
Pathogenic
HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy
Health Risk
RS2512449193
Pathogenic
HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy
Health Risk
RS2512450547
Pathogenic
HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy
Health Risk
RS2512452816
Pathogenic
HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy
Health Risk
RS2512454602
Pathogenic
HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1983378176 | Health Risk | Conflicting classifications of pathogenicity | HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy |
| RS201057562 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2144516632 | Health Risk | Conflicting classifications of pathogenicity | HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy |
| RS2144519137 | Health Risk | Conflicting classifications of pathogenicity | HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy |
| RS750959680 | Health Risk | Conflicting classifications of pathogenicity | See cases, Inborn genetic diseases, See cases |
| RS753793346 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1258293482 | Health Risk | Pathogenic | Febrile seizures, familial, 2 |
| RS2512439870 | Health Risk | Pathogenic | HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy |
| RS2512449193 | Health Risk | Pathogenic | HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy |
| RS2512450547 | Health Risk | Pathogenic | HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy |
| RS2512452816 | Health Risk | Pathogenic | HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy |
| RS2512454602 | Health Risk | Pathogenic | HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy |
| RS2512459304 | Health Risk | Pathogenic | HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy |
| RS746133376 | Health Risk | Pathogenic | HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy |
| RS756318406 | Health Risk | Pathogenic | HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy |
| RS1983378020 | Health Risk | Pathogenic/Likely pathogenic | HCN2 related developmental and epileptic encephalopathy, Epilepsy, idiopathic generalized |
| RS2144522815 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental delay, HCN2 related developmental and epileptic encephalopathy, Neurodevelopmental delay |
| RS1235020687 | Health Risk | risk factor | Febrile seizures, familial, 2 |
| RS746420784 | Health Risk | risk factor | Febrile seizures, familial, 2 |
| RS772145901 | Health Risk | risk factor | Febrile seizures, familial, 2 |