SCN2B

The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or sudden infant death syndrome.

Full Name

Sodium Voltage-Gated Channel Beta Subunit 2

Function

Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-2 causes an increase in the plasma membrane surface area and in its folding into microvilli. Interacts with TNR may play a crucial role in clustering and regulation of activity of sodium channels at nodes of Ranvier (By similarity).

Biological Process

Biological Process cardiac muscle cell action potential involved in contractionManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process cardiac muscle contractionManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process chemical synaptic transmissionManual Assertion Based On ExperimentTAS:ProtInc
Biological Process gene expressionIEA:Ensembl
Biological Process membrane depolarization during cardiac muscle cell action potentialManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process nervous system developmentIEA:Ensembl
Biological Process regulation of atrial cardiac muscle cell membrane depolarizationManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process regulation of heart rate by cardiac conductionManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process regulation of sodium ion transmembrane transporter activityManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process response to heatIEA:Ensembl
Biological Process response to pyrethroidIEA:Ensembl
Biological Process sodium ion transmembrane transportManual Assertion Based On ExperimentIDA:BHF-UCL

Cellular Location

Membrane

Involvement in disease

Atrial fibrillation, familial, 14 (ATFB14):
A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

Topology

Extracellular: 30-159
Helical: 160-180
Cytoplasmic: 181-215