SCN2A

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)
End	165,392,310 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	65,597,791 bp
RNA expression pattern
	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
	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
	6326
	110876
	ENSG00000136531
	ENSMUSG00000075318
	Q99250
	B1AWN6
	NM_001040142; NM_001040143; NM_021007; NM_001371246; NM_001371247
	NM_001099298; NM_001346679; NM_001346680
	NP_001035232; NP_001035233; NP_066287; NP_001358175; NP_001358176
	NP_001092768; NP_001333608; NP_001333609
	Wikidata
View/Edit Human	View/Edit Mouse

Sodium channel protein type 2 subunit alpha, also known as Na_v1.2, is an ion channel protein encoded by the SCN2A gene in humans. It represents one member of the sodium channel alpha subunit gene family. The SCN2A gene is located on chromosome 2 (2q24.3) in proximity to two other voltage-gated sodium channel genes, namely SCN1A and SCN9A. Na_v1.2 is distributed throughout the human central nervous system where it plays a major role in the initiation and propagation of action potentials. It is absent from peripheral tissues, with the exception of enteric neurons. Pathologic mutations in the SCN2A gene cause a broad spectrum of neurological conditions, such as epilepsy, autism spectrum disorder (ASD), intellectual disability (ID) and/or developmental delay, called SCN2A-related disorders.