≡

Sodium Channel Voltage Gated Type II Alpha (SCN2a)

[Edit]

HBSCI; SCN2A1; HBA; HBSCII; Na(v)1.2; Nav1.2; SCN2A2; NAC2; Sodium channel protein brain II subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.2

Sodium Channel Voltage Gated Type II Alpha (SCN2a)
CCC L092
HGNC 10588
MGI 98248
PubMed 23827426
RGD 3632
UniProt Q99250
Wiki SCN2A
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle.
SCN2aencodes one member of the sodium channel alpha subunit gene family. It is heterogeneously expressed in the brain, and mutations in this gene have been linked to several seizure disorders. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Sodium Channel Voltage Gated Type II Alpha (SCN2a) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Sodium Channel Voltage Gated Type II Alpha (SCN2a) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Sodium Channel Voltage Gated Type II Alpha (SCN2a) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Sodium Channel Voltage Gated Type II Alpha (SCN2a) CLIA Kit Customized Service Offer
n/a ELISA Kit for Sodium Channel Voltage Gated Type II Alpha (SCN2a) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Sodium Channel Voltage Gated Type II Alpha (SCN2a) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Sodium Channel Voltage Gated Type II Alpha (SCN2a) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Sodium Channel Voltage Gated Type II Alpha (SCN2a) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Sodium Channel Voltage Gated Type II Alpha (SCN2a) CLIA Kit Customized Service Offer
n/a ELISA Kit for Sodium Channel Voltage Gated Type II Alpha (SCN2a) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Sodium Channel Voltage Gated Type II Alpha (SCN2a) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Sodium Channel Voltage Gated Type II Alpha (SCN2a) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Sodium Channel Voltage Gated Type II Alpha (SCN2a) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Sodium Channel Voltage Gated Type II Alpha (SCN2a) CLIA Kit Customized Service Offer
n/a ELISA Kit for Sodium Channel Voltage Gated Type II Alpha (SCN2a) ELISA Kit Customized Service Offer
  1. "Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain."Proc. Natl. Acad. Sci. U.S.A. 89:8220-8224(1992) [PubMed] [Europe PMC] [Abstract]
  2. "Genomic structures of SCN2A and SCN3A -- candidate genes for deafness at the DFNA16 locus."Gene 264:113-122(2001) [PubMed] [Europe PMC] [Abstract]
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  4. "Differential expression of two sodium channel subtypes in human brain."FEBS Lett. 303:53-58(1992) [PubMed] [Europe PMC] [Abstract]
  5. "Direct amplification of a single dissected chromosomal segment by polymerase chain reaction: a human brain sodium channel gene is on chromosome 2q22-q23."Proc. Natl. Acad. Sci. U.S.A. 88:335-339(1991) [PubMed] [Europe PMC] [Abstract]
  6. "Crystallographic insights into sodium-channel modulation by the beta4 subunit."Proc. Natl. Acad. Sci. U.S.A. 110:E5016-E5024(2013) [PubMed] [Europe PMC] [Abstract]
  7. "A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction."Proc. Natl. Acad. Sci. U.S.A. 98:6384-6389(2001) [PubMed] [Europe PMC] [Abstract]
  8. ErratumProc. Natl. Acad. Sci. U.S.A. 98:10515-10515(2001)
  9. "Sodium-channel defects in benign familial neonatal-infantile seizures."Lancet 360:851-852(2002) [PubMed] [Europe PMC] [Abstract]
  10. ErratumLancet 360:1520-1520(2002)
  11. "Sodium channels SCN1A, SCN2A and SCN3A in familial autism."Mol. Psychiatry 8:186-194(2003) [PubMed] [Europe PMC] [Abstract]
  12. "Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy."Ann. Neurol. 55:550-557(2004) [PubMed] [Europe PMC] [Abstract]
  13. "A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures."Brain Dev. 27:424-430(2005) [PubMed] [Europe PMC] [Abstract]
  14. "De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies."Neurology 73:1046-1053(2009) [PubMed] [Europe PMC] [Abstract]
  15. "Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy."Brain 133:1403-1414(2010) [PubMed] [Europe PMC] [Abstract]
  16. "SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain."Neurology 75:1454-1458(2010) [PubMed] [Europe PMC] [Abstract]
  17. "Targeted next generation sequencing as a diagnostic tool in epileptic disorders." Epilepsia 53:1387-1398(2012) [PubMed] [Europe PMC] [Abstract]
  18. "Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings."Epilepsia 54:E81-E85(2013) [PubMed] [Europe PMC] [Abstract]
  19. "Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome." Neurology 81:992-998(2013) [PubMed] [Europe PMC] [Abstract]
  20. "SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism."Pediatr. Neurol. 49:46-49(2013) [PubMed] [Europe PMC] [Abstract]