MGP Database

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MGP002756

UniProt Annotations

Entry Information
Gene Namesodium channel, voltage gated, type II alpha subunit
Protein EntrySCN2A_HUMAN
UniProt IDQ99250
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Adult, 6A; IsoId=Q99250-1; Sequence=Displayed; Name=2; Synonyms=Neonatal, 6N; IsoId=Q99250-2; Sequence=VSP_001032;
DiseaseEpileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]: An autosomal dominant seizure disorder characterized by neonatal or infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. {ECO:0000269|PubMed:19786696, ECO:0000269|PubMed:20956790, ECO:0000269|PubMed:23550958, ECO:0000269|PubMed:23935176}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseSeizures, benign familial infantile 3 (BFIS3) [MIM:607745]: An autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae. {ECO:0000269|PubMed:11371648, ECO:0000269|PubMed:12243921, ECO:0000269|PubMed:15048894, ECO:0000269|PubMed:20371507}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe 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.
FunctionMediates 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. {ECO:0000269|PubMed:1325650}.
PtmMay be ubiquitinated by NEDD4L; which would promote its endocytosis. {ECO:0000250}.
PtmPhosphorylation at Ser-1506 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents. {ECO:0000250}.
Sequence CautionSequence=CAA46438.1; Type=Frameshift; Positions=1953; Evidence={ECO:0000305}; Sequence=CAA46438.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305};
SimilarityBelongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily. {ECO:0000305}.
SimilarityContains 1 IQ domain. {ECO:0000255|PROSITE- ProRule:PRU00116}.
Subcellular LocationCell membrane {ECO:0000269|PubMed:1325650}; Multi-pass membrane protein {ECO:0000269|PubMed:1325650}.
SubunitInteracts with NEDD4L. Interacts with CALM (By similarity). Heterooligomer of a large alpha subunit and a smaller beta subunit. Heterooligomer with SCN4B; disulfide-linked. {ECO:0000250, ECO:0000269|PubMed:24297919}.
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