Symbol
| SCN2B
| contributors: mct/ - updated : 13-09-2023
|
HGNC name
| sodium channel, voltage-gated, type II, beta
|
HGNC id
| 10589
|
corresponding disease(s)
|
ATFB14
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
| --low
|  
|
age-down regulated in the frontal cortex | |
Susceptibility
|
to atrial fibrillation to idiopathic epilepsy |
Variant & Polymorphism
SNP
| R28Q, R28W associated with atrial fibrillation (Watanabe 2009) |
|
rs602594 associated with idiopathic epilepsy |
|
|
Candidate gene
| for Brugada syndrome |
Marker
Therapy target
| | |
| deletion of Scn2b in mice results in ventricular and atrial arrhythmias, consistent with reported SCN2B mutations in human patients |