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SCN2A

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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.

Function

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four domains including 24 transmembrane segments and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes 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.[5]

Clinical significance

Mutations in this gene have been implicated in cases of autism,[6] infantile spasms, bitemporal glucose hypometabolism,[7] and bipolar disorder.[8]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000136531Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000075318Ensembl, 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. ^ a b "Entrez Gene: SCN2A sodium channel, voltage-gated, type II, alpha subunit".
  6. ^ Sanders SJ, Stephan J.; Murtha MT; Gupta AR; Murdoch JR; Raubeson MJ; Willsey AJ; Ercan-Sencicek AG; et al. (2012). "De novo mutations revealed by whole-exome sequencing are strongly associated with autism". Nature. 485 (7397): 237–241. Bibcode:2012Natur.485..237S. doi:10.1038/nature10945. PMC 3667984. PMID 22495306.
  7. ^ Sundaram SK, Chugani HT, Tiwari VN, Huq AH (July 2013). "SCN2A Mutation Is Associated With Infantile Spasms and Bitemporal Glucose Hypometabolism". Pediatr. Neurol. 49 (1): 46–9. doi:10.1016/j.pediatrneurol.2013.03.002. PMC 3868437. PMID 23827426.
  8. ^ Bipolar Disorder Working Group of the Psychiatric Genomics Consortium; et al. (2019). "Genome-wide association study identifies 30 loci associated with bipolar disorder". Nature Genetics. 51 (5): 793–803. doi:10.1038/s41588-019-0397-8. hdl:10481/58017. PMC 6956732. PMID 31043756.

Further reading

Patient Organizations

The SCN2A Foundation

SCN2A Asia Pacific

SCN2A Germany e. V.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.