Nav1.2

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
SCN2A
Protein SCN2A PDB 1byy.png
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
External IDsMGI: 98248 HomoloGene: 75001 GeneCards: SCN2A
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for SCN2A
Genomic location for SCN2A
Band2q24.3Start165,194,993 bp[1]
End165,392,310 bp[1]
RNA expression pattern
PBB GE SCN2A 206381 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001040142
NM_001040143
NM_021007

NM_001099298
NM_001346679
NM_001346680

RefSeq (protein)

NP_001035232
NP_001035233
NP_066287

NP_001092768
NP_001333608
NP_001333609

Location (UCSC)Chr 2: 165.19 – 165.39 MbChr 2: 65.62 – 65.77 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Navα1.2, also known as the sodium channel, voltage-gated, type II, alpha subunit 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 the Navα1.2 subunit are called Nav1.2 channels.

Function[edit]

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[edit]

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

See also[edit]

References[edit]

  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:".
  4. ^ "Mouse PubMed Reference:".
  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. 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.

Further reading[edit]

External links[edit]

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