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{{downsize|title=Na<sub>v</sub>1.2}}
{{DISPLAYTITLE:Na<sub>v</sub>1.2}}
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{{Infobox_gene}}
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
'''Na<sub>v</sub>α1.2''', also known as the '''sodium channel, voltage-gated, type II, alpha subunit''' is a [[protein]] that in humans is encoded by the '''SCN2A''' [[gene]].<ref name="entrez"/>  Functional sodium channels contain an ion conductive alpha subunit and one or more regulatory beta subunits.  Sodium channels which contain the Na<sub>v</sub>α1.2 subunit are called '''Na<sub>v</sub>1.2''' channels.
{{GNF_Protein_box
| image = PBB_Protein_SCN2A_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1byy.
| PDB = {{PDB2|1byy}}
| Name = Sodium channel, voltage-gated, type II, alpha subunit
| HGNCid = 10588
| Symbol = SCN2A
| AltSymbols =; HBSCI; SCN2A1; HBA; HBSCII; Na(v)1.2; Nav1.2; SCN2A2
| OMIM = 601219
| ECnumber = 
| Homologene = 75001
| MGIid = 
| GeneAtlas_image1 = PBB_GE_SCN2A_206381_at_tn.png
| Function = {{GNF_GO|id=GO:0005248 |text = voltage-gated sodium channel activity}} {{GNF_GO|id=GO:0031402 |text = sodium ion binding}}
| Component = {{GNF_GO|id=GO:0001518 |text = voltage-gated sodium channel complex}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006814 |text = sodium ion transport}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6326
    | Hs_Ensembl = ENSG00000136531
    | Hs_RefseqProtein = NP_001035232
    | Hs_RefseqmRNA = NM_001040142
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 165858829
    | Hs_GenLoc_end = 165954785
    | Hs_Uniprot = Q99250
    | Mm_EntrezGene = 
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = 
    | Mm_RefseqProtein = 
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''Na<sub>v</sub>α1.2''', also known as the '''sodium channel, voltage-gated, type II, alpha subunit''' is a human [[protein]] encoded by the '''SCN2A''' gene.<ref name="entrez">{{cite web | title = Entrez Gene: SCN2A sodium channel, voltage-gated, type II, alpha subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6326| accessdate = }}</ref>  Functional sodium channels contain an ion conductive alpha subunit and one or more regulatory beta subunits.  Sodium channels which contain the Na<sub>v</sub>α1.2 subunit are called '''Na<sub>v</sub>1.2''' channels.


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{PBB_Summary
 
| section_title =
[[Sodium channel#Voltage-gated|Voltage-gated sodium channel]]s 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 potential]]s 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.<ref name="entrez">{{cite web | title = Entrez Gene: SCN2A sodium channel, voltage-gated, type II, alpha subunit| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6326| accessdate = }}</ref>
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: SCN2A sodium channel, voltage-gated, type II, alpha subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6326| accessdate = }}</ref>
 
}}
== Clinical significance ==
 
Mutations in this gene have been implicated in cases of [[autism]],<ref name=Murtha_2012>{{cite journal|last=Sanders SJ,|first=Stephan J.|author2=Murtha MT |author3=Gupta AR |author4=Murdoch JR |author5=Raubeson MJ |author6=Willsey AJ |author7=Ercan-Sencicek AG | title = De novo mutations revealed by whole-exome sequencing are strongly associated with autism | journal = Nature | year = 2012 | doi = 10.1038/nature10945 | url = http://www.nature.com/nature/journal/vaop/ncurrent/full/nature10945.html |display-authors=etal | volume=485 | pages=237–241}}</ref> [[infantile spasm]]s and bitemporal glucose hypometabolism.<ref name="pmid23827426">{{cite journal |vauthors=Sundaram SK, Chugani HT, Tiwari VN, Huq AH | title = SCN2A Mutation Is Associated With Infantile Spasms and Bitemporal Glucose Hypometabolism | journal = Pediatr. Neurol. | volume = 49 | issue = 1 | pages = 46–9 |date=July 2013 | pmid = 23827426 | doi = 10.1016/j.pediatrneurol.2013.03.002 | pmc=3868437}}</ref>


==See also==
==See also==
* [[Sodium channel]]
* [[Sodium channel]]
* [[Paralytic (gene)|''paralytic'']] - SCN2A ortholog in ''Drosophila''


==References==
==References==
{{reflist|2}}
{{reflist}}


==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  |vauthors=Catterall WA, Goldin AL, Waxman SG |title=International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels. |journal=Pharmacol. Rev. |volume=57 |issue= 4 |pages= 397–409 |year= 2006 |pmid= 16382098 |doi= 10.1124/pr.57.4.4 }}
| citations =
*{{cite journal  |vauthors=Lu CM, Han J, Rado TA, Brown GB |title=Differential expression of two sodium channel subtypes in human brain. |journal=FEBS Lett. |volume=303 |issue= 1 |pages= 53–8 |year= 1992 |pmid= 1317301 |doi=10.1016/0014-5793(92)80476-W }}
*{{cite journal  | author=Catterall WA, Goldin AL, Waxman SG |title=International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels. |journal=Pharmacol. Rev. |volume=57 |issue= 4 |pages= 397-409 |year= 2006 |pmid= 16382098 |doi= 10.1124/pr.57.4.4 }}
*{{cite journal   |vauthors=Ahmed CM, Ware DH, Lee SC, etal |title=Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=89 |issue= 17 |pages= 8220–4 |year= 1992 |pmid= 1325650 |doi=10.1073/pnas.89.17.8220  | pmc=49889 }}
*{{cite journal  | author=Lu CM, Han J, Rado TA, Brown GB |title=Differential expression of two sodium channel subtypes in human brain. |journal=FEBS Lett. |volume=303 |issue= 1 |pages= 53-8 |year= 1992 |pmid= 1317301 |doi=  }}
*{{cite journal  |vauthors=Han JA, Lu CM, Brown GB, Rado TA |title=Direct amplification of a single dissected chromosomal segment by polymerase chain reaction: a human brain sodium channel gene is on chromosome 2q22-q23 |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=88 |issue= 2 |pages= 335–9 |year= 1991 |pmid= 1846440 |doi=10.1073/pnas.88.2.335  | pmc=50805  }}
*{{cite journal | author=Ahmed CM, Ware DH, Lee SC, ''et al.'' |title=Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=89 |issue= 17 |pages= 8220-4 |year= 1992 |pmid= 1325650 |doi=  }}
*{{cite journal   |vauthors=Litt M, Luty J, Kwak M, etal |title=Localization of a human brain sodium channel gene (SCN2A) to chromosome 2 |journal=Genomics |volume=5 |issue= 2 |pages= 204–8 |year= 1989 |pmid= 2571571 |doi=10.1016/0888-7543(89)90047-5  }}
*{{cite journal  | author=Han JA, Lu CM, Brown GB, Rado TA |title=Direct amplification of a single dissected chromosomal segment by polymerase chain reaction: a human brain sodium channel gene is on chromosome 2q22-q23. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=88 |issue= 2 |pages= 335-9 |year= 1991 |pmid= 1846440 |doi= }}
*{{cite journal  |vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 }}
*{{cite journal | author=Litt M, Luty J, Kwak M, ''et al.'' |title=Localization of a human brain sodium channel gene (SCN2A) to chromosome 2. |journal=Genomics |volume=5 |issue= 2 |pages= 204-8 |year= 1989 |pmid= 2571571 |doi= }}
*{{cite journal   |vauthors=Lu CM, Eichelberger JS, Beckman ML, etal |title=Isolation of the 5'-flanking region for human brain sodium channel subtype II alpha-subunit |journal=J. Mol. Neurosci. |volume=11 |issue= 3 |pages= 179–82 |year= 1999 |pmid= 10344788 |doi=10.1385/JMN:11:3:179 }}
*{{cite journal  | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791-806 |year= 1997 |pmid= 8889548 |doi=  }}
*{{cite journal   |vauthors=Baulac S, Gourfinkel-An I, Picard F, etal |title=A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33 |journal=Am. J. Hum. Genet. |volume=65 |issue= 4 |pages= 1078–85 |year= 2000 |pmid= 10486327 |doi=10.1086/302593  | pmc=1288241 }}
*{{cite journal | author=Lu CM, Eichelberger JS, Beckman ML, ''et al.'' |title=Isolation of the 5'-flanking region for human brain sodium channel subtype II alpha-subunit. |journal=J. Mol. Neurosci. |volume=11 |issue= 3 |pages= 179-82 |year= 1999 |pmid= 10344788 |doi=  }}
*{{cite journal  |vauthors=Schade SD, Brown GB |title=Identifying the promoter region of the human brain sodium channel subtype II gene (SCN2A) |journal=Brain Res. Mol. Brain Res. |volume=81 |issue= 1–2 |pages= 187–90 |year= 2001 |pmid= 11000491 |doi=10.1016/S0169-328X(00)00145-5 }}
*{{cite journal | author=Baulac S, Gourfinkel-An I, Picard F, ''et al.'' |title=A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. |journal=Am. J. Hum. Genet. |volume=65 |issue= 4 |pages= 1078-85 |year= 2000 |pmid= 10486327 |doi=  }}
*{{cite journal   |vauthors=Kasai N, Fukushima K, Ueki Y, etal |title=Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus |journal=Gene |volume=264 |issue= 1 |pages= 113–22 |year= 2001 |pmid= 11245985 |doi=10.1016/S0378-1119(00)00594-1 }}
*{{cite journal  | author=Schade SD, Brown GB |title=Identifying the promoter region of the human brain sodium channel subtype II gene (SCN2A). |journal=Brain Res. Mol. Brain Res. |volume=81 |issue= 1-2 |pages= 187-90 |year= 2001 |pmid= 11000491 |doi=  }}
*{{cite journal   |vauthors=Malacarne M, Gennaro E, Madia F, etal |title=Benign Familial Infantile Convulsions: Mapping of a Novel Locus on Chromosome 2q24 and Evidence for Genetic Heterogeneity |journal=Am. J. Hum. Genet. |volume=68 |issue= 6 |pages= 1521–6 |year= 2001 |pmid= 11326335 |doi=10.1086/320596  | pmc=1226140 }}
*{{cite journal | author=Kasai N, Fukushima K, Ueki Y, ''et al.'' |title=Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus. |journal=Gene |volume=264 |issue= 1 |pages= 113-22 |year= 2001 |pmid= 11245985 |doi=  }}
*{{cite journal   |vauthors=Sugawara T, Tsurubuchi Y, Agarwala KL, etal |title=A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 11 |pages= 6384–9 |year= 2001 |pmid= 11371648 |doi= 10.1073/pnas.111065098 | pmc=33477 }}
*{{cite journal | author=Malacarne M, Gennaro E, Madia F, ''et al.'' |title=Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity. |journal=Am. J. Hum. Genet. |volume=68 |issue= 6 |pages= 1521-6 |year= 2001 |pmid= 11326335 |doi=  }}
*{{cite journal   |vauthors=Heron SE, Crossland KM, Andermann E, etal |title=Sodium-channel defects in benign familial neonatal-infantile seizures |journal=Lancet |volume=360 |issue= 9336 |pages= 851–2 |year= 2002 |pmid= 12243921 |doi=10.1016/S0140-6736(02)09968-3 }}
*{{cite journal | author=Sugawara T, Tsurubuchi Y, Agarwala KL, ''et al.'' |title=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. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 11 |pages= 6384-9 |year= 2001 |pmid= 11371648 |doi= 10.1073/pnas.111065098 }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal | author=Heron SE, Crossland KM, Andermann E, ''et al.'' |title=Sodium-channel defects in benign familial neonatal-infantile seizures. |journal=Lancet |volume=360 |issue= 9336 |pages= 851-2 |year= 2002 |pmid= 12243921 |doi=  }}
*{{cite journal   |vauthors=Weiss LA, Escayg A, Kearney JA, etal |title=Sodium channels SCN1A, SCN2A and SCN3A in familial autism |journal=Mol. Psychiatry |volume=8 |issue= 2 |pages= 186–94 |year= 2003 |pmid= 12610651 |doi= 10.1038/sj.mp.4001241 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Yu FH, Westenbroek RE, Silos-Santiago I, etal |title=Sodium channel beta4, a new disulfide-linked auxiliary subunit with similarity to beta2 |journal=J. Neurosci. |volume=23 |issue= 20 |pages= 7577–85 |year= 2003 |pmid= 12930796 |doi=  }}
*{{cite journal | author=Weiss LA, Escayg A, Kearney JA, ''et al.'' |title=Sodium channels SCN1A, SCN2A and SCN3A in familial autism. |journal=Mol. Psychiatry |volume=8 |issue= 2 |pages= 186-94 |year= 2003 |pmid= 12610651 |doi= 10.1038/sj.mp.4001241 }}
*{{cite journal   |vauthors=McEwen DP, Meadows LS, Chen C, etal |title=Sodium channel beta1 subunit-mediated modulation of Nav1.2 currents and cell surface density is dependent on interactions with contactin and ankyrin |journal=J. Biol. Chem. |volume=279 |issue= 16 |pages= 16044–9 |year= 2004 |pmid= 14761957 |doi= 10.1074/jbc.M400856200 }}
*{{cite journal | author=Yu FH, Westenbroek RE, Silos-Santiago I, ''et al.'' |title=Sodium channel beta4, a new disulfide-linked auxiliary subunit with similarity to beta2. |journal=J. Neurosci. |volume=23 |issue= 20 |pages= 7577-85 |year= 2003 |pmid= 12930796 |doi=  }}
*{{cite journal   |vauthors=Kamiya K, Kaneda M, Sugawara T, etal |title=A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline |journal=J. Neurosci. |volume=24 |issue= 11 |pages= 2690–8 |year= 2004 |pmid= 15028761 |doi= 10.1523/JNEUROSCI.3089-03.2004 }}
*{{cite journal | author=McEwen DP, Meadows LS, Chen C, ''et al.'' |title=Sodium channel beta1 subunit-mediated modulation of Nav1.2 currents and cell surface density is dependent on interactions with contactin and ankyrin. |journal=J. Biol. Chem. |volume=279 |issue= 16 |pages= 16044-9 |year= 2004 |pmid= 14761957 |doi= 10.1074/jbc.M400856200 }}
*{{cite journal   |vauthors=Berkovic SF, Heron SE, Giordano L, etal |title=Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy |journal=Ann. Neurol. |volume=55 |issue= 4 |pages= 550–7 |year= 2004 |pmid= 15048894 |doi= 10.1002/ana.20029 }}
*{{cite journal | author=Kamiya K, Kaneda M, Sugawara T, ''et al.'' |title=A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. |journal=J. Neurosci. |volume=24 |issue= 11 |pages= 2690-8 |year= 2004 |pmid= 15028761 |doi= 10.1523/JNEUROSCI.3089-03.2004 }}
*{{cite journal   |vauthors=Pereira S, Vieira JP, Barroca F, etal |title=Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A |journal=Neurology |volume=63 |issue= 1 |pages= 191–2 |year= 2004 |pmid= 15249644 |doi=  10.1212/01.wnl.0000132844.20654.c1}}
*{{cite journal | author=Berkovic SF, Heron SE, Giordano L, ''et al.'' |title=Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. |journal=Ann. Neurol. |volume=55 |issue= 4 |pages= 550-7 |year= 2004 |pmid= 15048894 |doi= 10.1002/ana.20029 }}
*{{cite journal | author=Pereira S, Vieira JP, Barroca F, ''et al.'' |title=Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A. |journal=Neurology |volume=63 |issue= 1 |pages= 191-2 |year= 2004 |pmid= 15249644 |doi=  }}
}}
{{refend}}
{{refend}}


== External links ==
== External links ==
* {{MeshName|SCN2A+protein,+human}}
* {{MeshName|SCN2A+protein,+human}}
{{PDB Gallery|geneid=6326}}
{{Ion channels|g2}}
{{NLM content}}
[[Category:Sodium channels]]


{{membrane-protein-stub}}
{{membrane-protein-stub}}
{{NLM content}}
{{Ion channels}}
[[Category:Ion channels]]
{{WikiDoc Sources}}

Revision as of 19:17, 5 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

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

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

See also

References

  1. ↑ 1.0 1.1 "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. 485: 237–241. 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. PMC 3868437. PMID 23827426.

Further reading

External links

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


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