Nav1.2

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SCN2A
Protein SCN2A PDB 1byy.png
Available structures
PDB Human UniProt search: PDBe RCSB
Identifiers
Aliases SCN2A, BFIC3, BFIS3, BFNIS, EIEE11, HBA, HBSCI, HBSCII, NAC2, Na(v)1.2, Nav1.2, SCN2A1, SCN2A2, sodium voltage-gated channel alpha subunit 2
External IDs MGI: 98248 HomoloGene: 75001 GeneCards: 6326
Genetically Related Diseases
Disease Name References
periodontitis
RNA expression pattern
PBB GE SCN2A 206381 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001040142
NM_001040143
NM_021007

NM_001099298

RefSeq (protein)

NP_001035232.1
NP_001035233.1
NP_066287.2

n/a

Location (UCSC) Chr 2: 165.24 – 165.39 Mb Chr 2: 65.62 – 65.77 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/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.[4] 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.[4]

Clinical significance[edit]

Mutations in this gene have been implicated in cases of autism,[5] infantile spasms and bitemporal glucose hypometabolism.[6]

See also[edit]

References[edit]

  1. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_824&geneId=146475". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ a b "Entrez Gene: SCN2A sodium channel, voltage-gated, type II, alpha subunit". 
  5. ^ 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. 
  6. ^ 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.