Sodium channel protein type 2 subunit alpha (SCN2A) encoded by the SCN2A gene is a member of the sodium channel alpha subunit gene family. This protein has 2005 amino acids and the molecular mass is 227 kDa. It contains 4 internal repeats, each with 5 hydrophobic segments (S1, S2, S3, S5, S6) and one positively charged segment (S4). Segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. The protein heterooligomers with SCN2B or SCN4B by a disulfide bond to form voltage-gated sodium channels.
|Basic Information of SCN2A|
|Protein Name||Sodium channel protein type 2 subunit alpha|
|Gene Name||SCN2A, NAC2, SCN2A1, SCN2A2|
|Aliases||HBSC II, Sodium channel protein brain II subunit alpha, Sodium channel protein type II subunit alpha, Voltage-gated sodium channel subunit alpha Nav1.2|
|Organism||Homo sapiens (Human)|
SCN2A mediates the voltage-dependent sodium ion permeability of excitable membranes. Through the change of opened or closed conformations responding to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient. Mutations in SCN2A are associated with a variety of diseases, including benign familial neonatal-infantile seizures, generalized epilepsy with febrile seizures, Dravet syndrome, some intractable childhood epilepsies, and acute encephalitis with refractory, repetitive, partial seizures. Although almost all SCN2A mutations are missense, electrophysiological analyses show that different mutations cause diverse effects on NaV1.2 channel.
Fig.1 Roles of voltage-gated Na+ channels in taste cells. (Vandenbeuch, 2009)
This article expands the phenotypic spectrum of SCN2A encephalopathy and emphasizes SCN2A as a major gene for epilepsy of infancy with migrating focal seizures.
This article suggests a splice site mutation in SCN2A plays a role in autism spectrum disorder, which indicates that SCN2A mutator phenotype might help to reduce heterogeneity seen in autism spectrum disorder.
This article suggests that 14 novel SCN2A mutations in 15 patients with EOEE have been identified. All mutations show high scores for predicted negative effects on protein function.
This article reveals that SCN2A mutations are associated with a variety of human epilepsy syndromes, such as BFNIS and BFIS.
This article suggests that the SCN2A mutations might predispose children to repetitive encephalopathy with variable clinical and imaging findings.
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