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== SCN2A == |
== SCN2A == |
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”’Sodium channel protein type 2 subunit alpha”’, also known as ”’Na<sub>v</sub>1.2,”’ is a [[membrane protein]] |
”’Sodium channel protein type 2 subunit alpha”’, also known as ”’Na<sub>v</sub>1.2,”’ is a [[membrane protein]] encoded by the ”SCN2A” [[gene]].<ref name=”entrez”>{{cite web |title=Entrez Gene: SCN2A sodium channel, voltage-gated, type II, alpha subunit |url=https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=6326}}</ref> SCN2A is located on chromosome 2 (2q24.3) in proximity to ”SCN1A” and ”SCN9A”.<ref name=”Murtha_2012″ /> Functional Na<sub>v</sub>1.2 [[voltage-gated sodium channel]]<nowiki/>s contain an ion conductive alpha subunit and one or more regulatory beta subunits. <s>Sodium channels which contain sodium channel protein type 2 subunit alpha are sometimes called Na<sub>v</sub>1.2 channels.</s> channels are distributed throughout the human central nervous system but are absent from peripheral tissues.<ref name=”Murtha_2012″ /> Pathologic mutations in the SCN2A gene a broad spectrum of called [[SCN2A-related disorders]]. |
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== Structure == |
== Structure == |
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Latest revision as of 11:17, 1 November 2025
Sodium channel protein type 2 subunit alpha, also known as Nav1.2, is a membrane protein encoded by the SCN2A gene in humans.[1] The SCN2A gene is located on chromosome 2 (2q24.3) in proximity to SCN1A and SCN9A.[2] Functional Nav1.2 voltage-gated 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. These channels are distributed throughout the human central nervous system but are absent from peripheral tissues.[2] Pathologic mutations in the SCN2A gene cause a broad spectrum of neurological conditions called SCN2A-related disorders.
The SCN2A gene is composed of 27 exons and comprises more than 150 kilobases. There are two major splice variants known, a neonatal isoform and an adult isoform, which differ in one amino acid at position 209 (Asn versus Asp).[2] The neonatal isoform might limit neuronal excitability during development.[3] The voltage-gated sodium channel Nav1.2 encoded by the SCN2A gene consists of 2005 amino acids.[2] This single polypeptide forms a pseudotetrameric channel of four similar domains (I – IV) where each domain contains 6 transmembrane segments, including a voltage sensing region, a pore forming region and an ion-selectivity filter.[4]
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit (as described above) (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 across distinct neuronal subtypes and muscle.[2] 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
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Mutations in this gene have been implicated in cases of autism,[2] self-limited epilepsy, early infantile developmental and epileptic encephalopathy, later onset developmental and epileptic encephalopathy, infantile spasms, SCN2A-related disorders without epilepsy, episodic ataxia,[3] bitemporal glucose hypometabolism,[5] and bipolar disorder.[6]
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- ^ a b “Entrez Gene: SCN2A sodium channel, voltage-gated, type II, alpha subunit”.
- ^ a b c d e f 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. Bibcode:2012Natur.485..237S. doi:10.1038/nature10945. PMC 3667984. PMID 22495306.
- ^ a b George, Alfred L., ed. (2024). SCN2A-related disorders. Cambridge elements. Elements in genetics in epilepsy. Cambridge, United Kingdom New York, NY: Cambridge University Press. ISBNÂ 978-1-009-53036-1.
- ^ de Lera Ruiz, Manuel; Kraus, Richard L. (2015-09-24). “Voltage-Gated Sodium Channels: Structure, Function, Pharmacology, and Clinical Indications”. Journal of Medicinal Chemistry. 58 (18): 7093–7118. doi:10.1021/jm501981g. ISSN 0022-2623.
- ^ Sundaram, Senthil K.; Chugani, Harry T.; Tiwari, Vijay N.; Huq, A. H. M. M. (July 2013). “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.
- ^ Stahl, Eli A.; Breen, Gerome; Forstner, Andreas J.; McQuillin, Andrew; Ripke, Stephan; Trubetskoy, Vassily; Mattheisen, Manuel; Wang, Yunpeng; Coleman, Jonathan R. I.; Gaspar, Héléna A.; de Leeuw, Christiaan A.; Steinberg, Stacy; Pavlides, Jennifer M. Whitehead; Trzaskowski, Maciej; Byrne, Enda M. (May 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. ISSN 1546-1718. PMC 6956732. PMID 31043756.
