GENE NAME | SCN2A |
CHROMOSOME | 2 |
ENSEMBL ID | ENSG00000136531 |
ENTREZ ID | 6326 |
UNIPROT ACCESSION NUMBER | Q99250 |
GO MOLECULAR FUNCTION | protein binding; voltage-gated sodium channel activity |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-397014; R-HSA-445095; hsa04742; R-HSA-373760; R-HSA-9675108; R-HSA-422475; R-HSA-1266738; R-HSA-5576891; R-HSA-5576892 |
2 combinations linked to SCN2A | OLI168; OLI434 |
2 variants linked to SCN2A | SCN2A:c.1571G>A, p.Arg524Gln; SCN2A:c.5549A>G, p.Asp1850Gly |
2 diseases linked to SCN2A | Rare pervasive developmental disorder; Generalized epilepsy with febrile seizures-plus |