ID:SCN2A_HUMAN DESCRIPTION: RecName: Full=Sodium channel protein type 2 subunit alpha; AltName: Full=HBSC II; AltName: Full=Sodium channel protein brain II subunit alpha; AltName: Full=Sodium channel protein type II subunit alpha; AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.2; FUNCTION: 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. 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: 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: Defects in SCN2A are the cause of seizures, benign familial infantile type 3 (BFIS3) [MIM:607745]. An autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae. DISEASE: Defects in SCN2A are the cause of epileptic encephalopathy early infantile type 11 (EIEE11) [MIM:613721]. EIEE11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. SIMILARITY: Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily. SIMILARITY: Contains 1 IQ domain. SEQUENCE CAUTION: Sequence=CAA46438.1; Type=Frameshift; Positions=1953; Sequence=CAA46438.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCN2A";
Protein Domain and Structure Information
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