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SCN2A information


SCN2A
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSCN2A, BFIC3, BFIS3, BFNIS, EIEE11, HBA, HBSCI, HBSCII, NAC2, Na(v)1.2, Nav1.2, SCN2A1, SCN2A2, sodium voltage-gated channel alpha subunit 2, DEE11, EA9
External IDsOMIM: 182390; MGI: 98248; HomoloGene: 75001; GeneCards: SCN2A; OMA:SCN2A - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001040142
NM_001040143
NM_021007
NM_001371246
NM_001371247

NM_001099298
NM_001346679
NM_001346680

RefSeq (protein)

NP_001035232
NP_001035233
NP_066287
NP_001358175
NP_001358176

NP_001092768
NP_001333608
NP_001333609

Location (UCSC)Chr 2: 165.19 – 165.39 MbChr 2: 65.45 – 65.6 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sodium channel protein type 2 subunit alpha, is a protein that in humans is encoded by the SCN2A gene.[5] Functional sodium channels contain an ion conductive alpha subunit and one or more regulatory beta subunits. Sodium channels which contain sodium channel protein type 2 subunit alpha are sometimes called Nav1.2 channels.

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000136531 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000075318 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Cite error: The named reference entrez was invoked but never defined (see the help page).

and 17 Related for: SCN2A information

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SCN2A

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protein type 2 subunit alpha, is a protein that in humans is encoded by the SCN2A gene. Functional sodium channels contain an ion conductive alpha subunit...

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Generalized epilepsy with febrile seizures plus

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hyperexcitability. The final type of GEFS+ is caused by mutations in the SCN2A gene, which encodes a sodium channel α subunit. The first associated mutation...

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Dravet syndrome

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gene does not necessarily mean that the patient has Dravet syndrome. - SCN2A: This gene encodes the alpha-2 subunit of the sodium ion channel (Nav1.2)...

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Sudden unexpected death in epilepsy

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have been identified with LQT8. The sodium ion channel genes SCN1A, SCN1B, SCN2A, and SCN8A and the potassium channel KCNA1 have been implicated in both...

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Sodium channel

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familial autism, Rasmussens's encephalitis and Lennox-Gastaut syndrome Nav1.2 SCN2A Central neurons, peripheral neurons inherited febrile seizures, epilepsy...

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List of genetic disorders

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muscular dystrophy Dystrophin X-linked recessive Dravet syndrome SCN1A, SCN2A 1:20,000-40,000 Ectrodactyly-polydactyly syndrome Edwards syndrome 18 trisomy...

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Idiopathic generalized epilepsy

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causative genes for GEFS+ are the sodium channel α subunit genes SCN1A and SCN2A and the β subunit gene SCN1B. Mutations in the GABAA receptor γ subunit...

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SCN3A

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Nishizaki K, Meyer NC, Smith RJ (February 2001). "Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus". Gene. 264...

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Syndromic autism

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Chromosomal (e.g.: isodicentric 15q) ASD-risk genes (e.g.: ADNP, ARIDB1B, ANK2, SCN2A) ASD-associated CNVs (e.g.: 16p11.2 deletion/duplication, exonic NRXN1 deletions)...

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Ohtahara syndrome

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in ARX, CDKL5, SLC25A22, STXBP1, SPTAN1, KCNQ2, ARHGEF9, PCDH19, PNKP, SCN2A, PLCB1, SCN8A, ST3GAL3, TBC1D24, BRAT1 and likely others. Less often, the...

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Cation channel superfamily

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(KCNT2) - SLICK KCa3.1 (IKCa1, SK4, KCNN4) KCa5.1 (Slo3, KCNU1) NALCN SCN1A; SCN2A; SCN2A2; SCN3A; SCN4A; SCN5A; SCN7A; SCN8A; SCN9A; SCN10A; SCN11A SLC9A10;...

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Wendy Chung

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Bender, Kevin J. (2018-07-01). "Progress in Understanding and Treating SCN2A-Mediated Disorders". Trends in Neurosciences. 41 (7): 442–456. doi:10.1016/j...

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Epilepsy syndromes

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self-limited neonatal epilepsy, PRRT2 or less commonly SCN2A or SCN8A in self-limited infantile epilepsy and SCN2A or KCNQ2 in self-limited neonatal-infantile epilepsy...

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Benign familial infantile epilepsy

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seizures (BFNIS) has been described, which is due to a mutation in the SCN2A gene. Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, et al. Revised...

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Joseph Buxbaum

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; Buxbaum, J. D.; Meisler, M. H. (2003-02-01). "Sodium channels SCN1A, SCN2A and SCN3A in familial autism". Molecular Psychiatry. 8 (2): 186–194. doi:10...

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Raventoxin

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the alpha subunit of the mammalian voltage-gated sodium channel Nav1.2 (SCN2A). Binding of Magi 5 to the sodium channels shifts both activation and inactivation...

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Phrixotoxin

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inhibits several voltage gated sodium channel subtypes (Nav1.1/SCN1A, Nav1.2/SCN2A, Nav1.4/SCN4A, Nav1.5/SCN5A, and Nav1.8/SCN10A) (Bosmans 2006) harv error:...

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