FUNCTION: SwissProt: Q99250 # Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response 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.
SIZE: 2005 amino acids; 227975 Da
SUBUNIT: The sodium channel consists of a large polypeptide and 2- 3 smaller ones. This sequence represents a large polypeptide. Interacts with NEDD4L (By similarity).
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
DOMAIN: SwissProt: Q99250 The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.
PTM: May be ubiquitinated by NEDD4L; which would promote its endocytosis (By similarity).
DISEASE: SwissProt: Q99250 # Defects in SCN2A are a cause of generalized epilepsy with febrile seizures plus (GEFS+) [MIM:604233]. This autosomal dominant disorder is characterized by febrile seizures in children and afebrile seizures in adults. Penetrance is incomplete and a large intrafamilial variability of the phenotype is observed. & Defects in SCN2A are a cause of benign familial neonatal- infantile seizures (BFNIS) [MIM:607745]. BFNIS is an autosomal dominant epilepsy syndromes well recognized in the first year of life. It may be associated with paroxysmal dyskinesias in later childhood and can also occur as a non-familial form.
SIMILARITY: Belongs to the sodium channel family. & Contains 1 IQ domain.