Preferred Label : SCN2A wt Allele;
NCIt synonyms : BFIS3; BFIC3; BFNIS; EIEE11; Sodium Channel, Brain Type II, Alpha Subunit Gene; SCN2A2; HBSCII; NAC2; Nav1.2; HBSCI; Na(v)1.2; SCN2A1; HBA; Sodium Voltage-Gated Channel Alpha Subunit 2 wt Allele; Sodium Channel, Neuronal Type II, Alpha Subunit-1 Gene; Sodium Channel, Voltage-Gated, Type II, Alpha 1 Polypeptide Gene; Sodium Channel, Voltage Gated, Type II, Alpha Subunit Gene; Sodium Channel, Voltage-Gated, Type II, Alpha Polypeptide Gene; Sodium Channel, Voltage-Gated, Type II, Alpha Subunit Gene; Sodium Channel, Neuronal Type II, Alpha Subunit Gene; Sodium Channel, Voltage-Gated, Type II, Alpha 2 Polypeptide Gene;
NCIt definition : Human SCN2A wild-type allele is located in the vicinity of 2q24.3 and is approximately
153 kb in length. This allele, which encodes sodium channel protein type 2 subunit
alpha protein, plays a role in both sodium transport and membrane potential. Mutation
of the gene is associated with both benign familial infantile type 3 seizures and
epileptic encephalopathy early infantile type 11.;
NCIt note : Mutation of the SCN2A gene may be associated with autism. (Nature. 2012; 485:237-241.);
GenBank Accession Number : AB208888;
Origin ID : C102445;
UMLS CUI : C3538758;
OMIM relation
- See also inter- (CISMeF)
- Semantic type(s)
- gene_found_in_organism
- gene_plays_role_in_process
