From Wikipedia, the free encyclopedia
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, EA9External IDs
OMIM :
182390 ;
MGI :
98248 ;
HomoloGene :
75001 ;
GeneCards :
SCN2A ;
OMA :
SCN2A - orthologs
RNA expression pattern
Bgee
Human
Mouse (ortholog)
Top expressed in middle temporal gyrus Brodmann area 23 cerebellar vermis entorhinal cortex cerebellar hemisphere parietal lobe postcentral gyrus superior frontal gyrus right hemisphere of cerebellum endothelial cell
Top expressed in piriform cortex lobe of cerebellum cerebellar vermis primary motor cortex amygdala anterior amygdaloid area dorsomedial hypothalamic nucleus subiculum cingulate gyrus ventromedial nucleus
More reference expression data
BioGPS
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 Nav 1.2 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
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000136531 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000075318 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
a
b
"Entrez Gene: SCN2A sodium channel, voltage-gated, type II, alpha subunit" .
^ 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 .
^ 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 .
^ 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
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 .
S2CID
7332624 .
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.
doi :
10.1016/0014-5793(92)80476-W .
PMID
1317301 .
S2CID
29330026 .
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.
Bibcode :
1992PNAS...89.8220A .
doi :
10.1073/pnas.89.17.8220 .
PMC
49889 .
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.
Bibcode :
1991PNAS...88..335H .
doi :
10.1073/pnas.88.2.335 .
PMC
50805 .
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.
doi :
10.1016/0888-7543(89)90047-5 .
PMID
2571571 .
Bonaldo MF, Lennon G, Soares MB (1997).
"Normalization and subtraction: two approaches to facilitate gene discovery" . Genome Res . 6 (9): 791–806.
doi :
10.1101/gr.6.9.791 .
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.
doi :
10.1385/JMN:11:3:179 .
PMID
10344788 .
S2CID
33328638 .
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.
doi :
10.1086/302593 .
PMC
1288241 .
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.
doi :
10.1016/S0169-328X(00)00145-5 .
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.
doi :
10.1016/S0378-1119(00)00594-1 .
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.
doi :
10.1086/320596 .
PMC
1226140 .
PMID
11326335 .
Sugawara T, Tsurubuchi Y, Agarwala KL, et al. (2001).
"A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction" . Proc. Natl. Acad. Sci. U.S.A . 98 (11): 6384–9.
Bibcode :
2001PNAS...98.6384S .
doi :
10.1073/pnas.111065098 .
PMC
33477 .
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.
doi :
10.1016/S0140-6736(02)09968-3 .
PMID
12243921 .
S2CID
6105850 .
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.
Bibcode :
2002PNAS...9916899M .
doi :
10.1073/pnas.242603899 .
PMC
139241 .
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 .
S2CID
16606651 .
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.
doi :
10.1523/JNEUROSCI.23-20-07577.2003 .
PMC
6740763 .
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 .
PMC
6729532 .
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 .
S2CID
11604421 .
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.
doi :
10.1212/01.wnl.0000132844.20654.c1 .
PMID
15249644 .
S2CID
38453487 .
External links
Patient Organizations
The SCN2A Foundation
SCN2A Asia Pacific
SCN2A Germany e. V.
This article incorporates text from the
United States National Library of Medicine , which is in the
public domain .