Symbol
| HCN2
| contributors: mct/npt/pgu - updated : 18-03-2019
|
HGNC name
| hyperpolarization activated cyclic nucleotide-gated potassium channel 2
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HGNC id
| 4846
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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constitutional
| germinal mutation
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|  
| gain of function
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in Genetic generalized epilepsy (GGE) | constitutional
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|  
| --over
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in chronic inflammation resulting in an increased expression of HCN2 and causing sensitization in peripheral and spinal terminals of the pain transduction pathway | constitutional
| germinal mutation
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|  
|  
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contributes to febrile seizures by shifting the channel's kinetics in a temperature-dependent manner | |
Variant & Polymorphism
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| |
Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
miscelleaneous | pain | | |
HCN2-selective blockers may have value as analgesics to combat both inflammatory and neuropathic pain | neurology | neurodegenerative | alzheimer | |
silencing or inhibition of HCN2 affects APP processing and thereby could serve as a potential treatment strategy |
| | | |
| mutation in HCN2 likely leads to impaired gastrointestinal motility, causing the severe growth restriction seen in mice with mutations that eliminate HCN2 expression |