DISEASES

Disease-gene associations mined from literature

Literature on SCN2A

SCN2A [ENSP00000490107]

Sodium channel protein type 2 subunit alpha; 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). ECO:0000269|PubMed:17021166, ECO:0000269|PubMed:28256214,; Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily.

Synonyms:  SCN2A,  SCN2Ap,  hSCN2A,  A0A0D9SGG2,  A0A1B0GTS6 ...

Linkouts:  STRING  Pharos  UniProt