Aliases for SCN2A Gene
- Sodium Voltage-Gated Channel Alpha Subunit 2 2 3 5
- Sodium Channel, Voltage-Gated, Type II, Alpha 1 Polypeptide 2 3
- Sodium Channel, Voltage-Gated, Type II, Alpha 2 Polypeptide 2 3
- Sodium Channel, Voltage-Gated, Type II, Alpha Subunit 2 3
- Voltage-Gated Sodium Channel Subunit Alpha Nav1.2 3 4
- Sodium Channel Protein Brain II Subunit Alpha 3 4
- Sodium Channel Protein Type II Subunit Alpha 3 4
- Sodium Channel Protein Type 2 Subunit Alpha 3 4
- SCN2A1 3 4
- SCN2A2 3 4
- NAC2 3 4
- Sodium Channel, Voltage Gated, Type II Alpha Subunit 2
External Ids for SCN2A Gene
Previous HGNC Symbols for SCN2A Gene
Previous GeneCards Identifiers for SCN2A Gene
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
GeneCards Summary for SCN2A Gene
SCN2A (Sodium Voltage-Gated Channel Alpha Subunit 2) is a Protein Coding gene. Diseases associated with SCN2A include Seizures, Benign Familial Infantile, 3 and Epileptic Encephalopathy, Early Infantile, 11. Among its related pathways are Activation of cAMP-Dependent PKA and Developmental Biology. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated sodium channel activity. An important paralog of this gene is SCN1A.
UniProtKB/Swiss-Prot Summary for SCN2A Gene
Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:1325650, PubMed:17021166, PubMed:28256214, PubMed:29844171). Implicated in the regulation of hippocampal replay occurring within sharp wave ripples (SPW-R) important for memory (By similarity).
Voltage-gated sodium channels (NaV) are responsible for action potential initiation and propagation in excitable cells, including nerve, muscle, and neuroendocrine cell types. They are also expressed at low levels in non-excitable cells, where their physiological role is unclear.