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== Clinical significance ==
== 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 |pmid=22495306|display-authors=etal | volume=485 |issue=7397| pages=237–241|pmc=3667984 }}</ref> [[infantile spasm]]s 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>, and [[bipolar disorder]].<ref name = Stahl_2019>{{cite journal|last=Bipolar Disorder Working Group of the Psychiatric Genomics Consortium| title = Genome-wide association study identifies 30 loci associated with bipolar disorder | journal = Nature Genetics | year = 2019 | doi = 10.1038/s41588-019-0397-8 |pmid= 31043756 |display-authors=etal | volume=51 | pages=793-803| hdl= 10481/58017 | hdl-access= free | pmc= 6956732 }}</ref>
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 |pmid=22495306|display-authors=etal | volume=485 |issue=7397| pages=237–241|pmc=3667984 }}</ref> [[infantile spasm]]s 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>, and [[bipolar disorder]].<ref name = Stahl_2019>{{cite journal|last=Bipolar Disorder Working Group of the Psychiatric Genomics Consortium| title = Genome-wide association study identifies 30 loci associated with bipolar disorder | journal = Nature Genetics | year = 2019 | doi = 10.1038/s41588-019-0397-8 |pmid= 31043756 |display-authors=etal | volume=51 | issue = 5 | pages=793–803| hdl= 10481/58017 | hdl-access= free | pmc= 6956732 }}</ref>


==See also==
==See also==
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==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
*{{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 |url=https://semanticscholar.org/paper/2e6f7e97c54bc8cd20f0c9a6efb0deb6f5b5e20b }}
*{{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 |s2cid=7332624 |url=https://semanticscholar.org/paper/2e6f7e97c54bc8cd20f0c9a6efb0deb6f5b5e20b }}
*{{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 |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 |s2cid=29330026 }}
*{{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 |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 |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 |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 |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 |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 |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 |doi-access=free }}
*{{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 |doi-access=free }}
*{{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 |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 |s2cid=33328638 }}
*{{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 |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 |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 |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 }}
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*{{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 |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 |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 |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 |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 |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 |s2cid=6105850 }}
*{{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 |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 |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 |doi-access= free }}
*{{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 |doi-access= free }}
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*{{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 |doi-access= free }}
*{{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 |doi-access= free }}
*{{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 |pmc=6729532 |doi= 10.1523/JNEUROSCI.3089-03.2004 }}
*{{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 |pmc=6729532 |doi= 10.1523/JNEUROSCI.3089-03.2004 }}
*{{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 |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 |s2cid=11604421 }}
*{{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 |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|s2cid=38453487 }}
{{refend}}
{{refend}}


Revision as of 15:03, 11 October 2020

SCN2A
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, DEE11, EA9
External IDsOMIM: 182390; MGI: 98248; HomoloGene: 75001; GeneCards: SCN2A; OMA:SCN2A - orthologs
Orthologs
SpeciesHumanMouse
Entrez

6326

110876

Ensembl

ENSG00000136531

ENSMUSG00000075318

UniProt

Q99250

B1AWN6

RefSeq (mRNA)

NM_001040142
NM_001040143
NM_021007
NM_001371246
NM_001371247

NM_001099298
NM_001346679
NM_001346680

RefSeq (protein)

NP_001035232
NP_001035233
NP_066287
NP_001358175
NP_001358176

NP_001092768
NP_001333608
NP_001333609

Location (UCSC)Chr 2: 165.19 – 165.39 MbChr 2: 65.45 – 65.6 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

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

Mutations in this gene have been implicated in cases of autism,[6] infantile spasms bitemporal glucose hypometabolism [7], and bipolar disorder.[8]

See also

References

  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:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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.
  8. ^ Bipolar Disorder Working Group of the Psychiatric Genomics Consortium; et al. (2019). "Genome-wide association study identifies 30 loci associated with bipolar disorder". Nature Genetics. 51 (5): 793–803. doi:10.1038/s41588-019-0397-8. hdl:10481/58017. PMC 6956732. PMID 31043756.

Further reading

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


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