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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 |bibcode=2012Natur.485..237S}}</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>

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 |volume=485 |issue=7397 pages=237–241 |bibcode=2012Natur.485..237S}}</ref>[[infantile spasm]], ,<ref>{{ |= | = journal = . | = | = | = |date=2013 | 23827426 | = 10.1016/j.pediatrneurol.2013.03.002 | pmc=3868437}}</ref> and [[bipolar disorder]]<ref>{{ journal|last= | = | = | = | = .- |= |= | volume=51 |issue=5 |pages=793–803 =/ |= |pmc=6956732 }}</ref>

==See also==

==See also==

Latest revision as of 09:09, 23 October 2025

Protein-coding gene in the species Homo sapiens

SCN2A
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, DEE11, EA9
External IDs OMIM: 182390; MGI: 98248; HomoloGene: 75001; GeneCards: SCN2A; OMA:SCN2A – orthologs
Wikidata

Sodium channel protein type 2 subunit alpha, 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 sodium channel protein type 2 subunit alpha are sometimes called Nav1.2 channels.

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

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Mutations in this gene have been implicated in cases of autism[6], self-limited epilepsy, early infantile developmental and epileptic encephalopathy, later onset developmental and epileptic encephalopathy, infantile spasms, SCN2A-related disorders without epilepsy, episodic ataxia[7], bitemporal glucose hypometabolism[8], and bipolar disorder[9].

  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 SJ, 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. Bibcode:2012Natur.485..237S. doi:10.1038/nature10945. PMC 3667984. PMID 22495306.
  7. ^ George AL, ed. (2024). SCN2A-related disorders. Cambridge elements. Elements in genetics in epilepsy. Cambridge, United Kingdom New York, NY: Cambridge University Press. ISBN 978-1-009-53036-1.
  8. ^ Sundaram SK, Chugani HT, Tiwari VN, Huq AH (2013-07). “SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism”. Pediatric Neurology. 49 (1): 46–49. doi:10.1016/j.pediatrneurol.2013.03.002. ISSN 1873-5150. PMC 3868437. PMID 23827426.
  9. ^ Stahl EA, Breen G, Forstner AJ, McQuillin A, Ripke S, Trubetskoy V, Mattheisen M, Wang Y, Coleman JR, Gaspar HA, de Leeuw CA, Steinberg S, Pavlides JM, Trzaskowski M, Byrne EM (2019-05). “Genome-wide association study identifies 30 loci associated with bipolar disorder”. Nature Genetics. 51 (5): 793–803. doi:10.1038/s41588-019-0397-8. ISSN 1546-1718. PMC 6956732. PMID 31043756.

Patient advocacy organizations (PAO / PAG)

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

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