Nav1.2

From Wikipedia, the free encyclopedia

The correct title of this article is Nav1.2. It features superscript or subscript characters that are substituted or omitted because of technical limitations.


Sodium channel, voltage-gated, type II, alpha subunit
PDB rendering based on 1byy.
Available structures: 1byy
Identifiers
Symbol(s) SCN2A; HBSCI; SCN2A1; HBA; HBSCII; Na(v)1.2; Nav1.2; SCN2A2
External IDs OMIM: 601219 HomoloGene: 75001
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 6326 n/a
Ensembl ENSG00000136531 n/a
Uniprot Q99250 n/a
Refseq NM_001040142 (mRNA)
NP_001035232 (protein)		 n/a (mRNA)
n/a (protein)
Location Chr 2: 165.86 - 165.95 Mb n/a
Pubmed search [1] n/a

Navα1.2, also known as the sodium channel, voltage-gated, type II, alpha subunit is a human protein 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.

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains 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]

Contents

[edit] See also

[edit] References

  1. ^ a b Entrez Gene: SCN2A sodium channel, voltage-gated, type II, alpha subunit.

[edit] Further reading

  • Catterall WA, Goldin AL, Waxman SG (2006). "International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels.". Pharmacol. Rev. 57 (4): 397-409. doi:10.1124/pr.57.4.4. PMID 16382098. 
  • Lu CM, Han J, Rado TA, Brown GB (1992). "Differential expression of two sodium channel subtypes in human brain.". FEBS Lett. 303 (1): 53-8. PMID 1317301. 
  • Ahmed CM, Ware DH, Lee SC, et al. (1992). "Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain.". Proc. Natl. Acad. Sci. U.S.A. 89 (17): 8220-4. PMID 1325650. 
  • Han JA, Lu CM, Brown GB, Rado TA (1991). "Direct amplification of a single dissected chromosomal segment by polymerase chain reaction: a human brain sodium channel gene is on chromosome 2q22-q23.". Proc. Natl. Acad. Sci. U.S.A. 88 (2): 335-9. PMID 1846440. 
  • Litt M, Luty J, Kwak M, et al. (1989). "Localization of a human brain sodium channel gene (SCN2A) to chromosome 2.". Genomics 5 (2): 204-8. PMID 2571571. 
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791-806. PMID 8889548. 
  • Lu CM, Eichelberger JS, Beckman ML, et al. (1999). "Isolation of the 5'-flanking region for human brain sodium channel subtype II alpha-subunit.". J. Mol. Neurosci. 11 (3): 179-82. PMID 10344788. 
  • Baulac S, Gourfinkel-An I, Picard F, et al. (2000). "A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.". Am. J. Hum. Genet. 65 (4): 1078-85. PMID 10486327. 
  • Schade SD, Brown GB (2001). "Identifying the promoter region of the human brain sodium channel subtype II gene (SCN2A).". Brain Res. Mol. Brain Res. 81 (1-2): 187-90. PMID 11000491. 
  • Kasai N, Fukushima K, Ueki Y, et al. (2001). "Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus.". Gene 264 (1): 113-22. PMID 11245985. 
  • Malacarne M, Gennaro E, Madia F, et al. (2001). "Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity.". Am. J. Hum. Genet. 68 (6): 1521-6. PMID 11326335. 
  • Sugawara T, Tsurubuchi Y, Agarwala KL, et al. (2001). "A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.". Proc. Natl. Acad. Sci. U.S.A. 98 (11): 6384-9. doi:10.1073/pnas.111065098. PMID 11371648. 
  • Heron SE, Crossland KM, Andermann E, et al. (2002). "Sodium-channel defects in benign familial neonatal-infantile seizures.". Lancet 360 (9336): 851-2. PMID 12243921. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Weiss LA, Escayg A, Kearney JA, et al. (2003). "Sodium channels SCN1A, SCN2A and SCN3A in familial autism.". Mol. Psychiatry 8 (2): 186-94. doi:10.1038/sj.mp.4001241. PMID 12610651. 
  • Yu FH, Westenbroek RE, Silos-Santiago I, et al. (2003). "Sodium channel beta4, a new disulfide-linked auxiliary subunit with similarity to beta2.". J. Neurosci. 23 (20): 7577-85. PMID 12930796. 
  • McEwen DP, Meadows LS, Chen C, et al. (2004). "Sodium channel beta1 subunit-mediated modulation of Nav1.2 currents and cell surface density is dependent on interactions with contactin and ankyrin.". J. Biol. Chem. 279 (16): 16044-9. doi:10.1074/jbc.M400856200. PMID 14761957. 
  • Kamiya K, Kaneda M, Sugawara T, et al. (2004). "A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.". J. Neurosci. 24 (11): 2690-8. doi:10.1523/JNEUROSCI.3089-03.2004. PMID 15028761. 
  • Berkovic SF, Heron SE, Giordano L, et al. (2004). "Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.". Ann. Neurol. 55 (4): 550-7. doi:10.1002/ana.20029. PMID 15048894. 
  • Pereira S, Vieira JP, Barroca F, et al. (2004). "Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A.". Neurology 63 (1): 191-2. PMID 15249644. 

[edit] External links

 This membrane protein-related article is a stub. You can help Wikipedia by expanding it.

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

v • d • e
Membrane transport protein: ion channels
Ca2+: Calcium channel
Na+: Sodium channel
Navα (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.9, 7A) • Navβ (1, 2, 3, 4) • Epithelial sodium channel
K+: Potassium channel
Cl-: Chloride channel
Porin
Cations: TRP
TRPA (1) • TRPC (1, 2, 3, 4, 4AP, 5, 6, 7) • TRPM (1, 2, 3, 4, 5, 6, 7, 8) • TRPML (Mucolipin-1) • TRPP (1, 2) • TRPV (1, 2, 3, 4, 5, 6)
Other/general