Nav1.2

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Sodium channel, voltage-gated, type II, alpha subunit
Protein SCN2A PDB 1byy.png
PDB rendering based on 1byy.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols SCN2A ; BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; NAC2; Na(v)1.2; Nav1.2; SCN2A1; SCN2A2
External IDs OMIM182390 HomoloGene75001 IUPHAR: Nav1.2 ChEMBL: 4187 GeneCards: SCN2A Gene
RNA expression pattern
PBB GE SCN2A 206381 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6326 110876
Ensembl ENSG00000136531 ENSMUSG00000075318
UniProt Q99250 A2AJZ1
RefSeq (mRNA) NM_001040142 NM_001099298
RefSeq (protein) NP_001035232 NP_001092768
Location (UCSC) Chr 2:
166.1 – 166.25 Mb
Chr 2:
65.62 – 65.77 Mb
PubMed search [1] [2]

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.[1] 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.[1]

Clinical significance[edit]

Mutations in this gene have been implicated in cases of autism,[2] infantile spasms and bitemporal glucose hypometabolism.[3]

See also[edit]

References[edit]

  1. ^ a b "Entrez Gene: SCN2A sodium channel, voltage-gated, type II, alpha subunit". 
  2. ^ 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. doi:10.1038/nature10945. 
  3. ^ 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. 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.