Aliases for SCN2A Gene
- Sodium Channel, Voltage Gated, Type II Alpha Subunit 2 3
- SCN2A1 3 4 6
- Sodium Channel, Voltage-Gated, Type II, Alpha 2 Polypeptide 2 3
- Sodium Channel, Voltage-Gated, Type II, Alpha 1 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
- HBSC II 3 4
- SCN2A2 3 4
- EIEE11 3 6
- BFIC3 3 6
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 24 transmembrane domains 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. [provided by RefSeq, Jul 2008]
GeneCards Summary for SCN2A Gene
SCN2A (Sodium Channel, Voltage Gated, Type II Alpha Subunit) 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 L1CAM interactions and Activation of cAMP-Dependent PKA. GO annotations related to this gene include voltage-gated sodium channel activity. An important paralog of this gene is CACNA1D.
UniProtKB/Swiss-Prot 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.
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. Structurally, Nav channels are composed of one pore-forming alpha-subunit, which may be associated with either one or more beta-subunits. alpha-subunits are composed for four homologous domains, each of which contains six transmembrane segments. The fourth transmembrane loop (S4) acts as the 'voltage sensor' and is activated by changes in membrane potential. S4 is also involved in channel gating.