Details for Gene SCN2A

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 OLI434; OLI168
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

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