SCN2A

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 Na_v1.2 channels.

SCN2A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2KAV, 4JPZ
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
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q24.3 Start 165,194,993 bp[1] End 165,392,310 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 C1.3|2 38.61 cM Start 65,451,115 bp[2] End 65,597,791 bp[2]
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 More reference expression data
Gene ontology Molecular function sodium channel activity voltage-gated ion channel activity ion channel activity voltage-gated sodium channel activity Cellular component voltage-gated sodium channel complex integral component of membrane membrane intrinsic component of plasma membrane sodium channel complex plasma membrane node of Ranvier integral component of plasma membrane intracellular anatomical structure intercalated disc T-tubule axon paranode region of axon glutamatergic synapse integral component of presynaptic membrane Biological process membrane depolarization during action potential sodium ion transport regulation of ion transmembrane transport ion transport transmembrane transport myelination neuronal action potential sodium ion transmembrane transport nervous system development intrinsic apoptotic signaling pathway in response to osmotic stress neuron apoptotic process memory cellular response to hypoxia Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 2: 65.45 – 65.6 Mb PubMed search [3] [4]
Wikidata
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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

• paralytic - SCN2A ortholog in Drosophila